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'''Kagami-Ogata syndrome''' is a rare genetic disease that is caused by mutations on Maternal chromosome 14 or by paternal ](14).<ref>{{Cite journal |last=Kagami |first=Masayo |last2=Kurosawa |first2=Kenji |last3=Miyazaki |first3=Osamu |last4=Ishino |first4=Fumitoshi |last5=Matsuoka |first5=Kentaro |last6=Ogata |first6=Tsutomu |date=2015-11 |title=Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome) |url=https://pubmed.ncbi.nlm.nih.gov/25689926/ |journal=European journal of human genetics: EJHG |volume=23 |issue=11 |pages=1488–1498 |doi=10.1038/ejhg.2015.13 |issn=1476-5438 |pmc=4613461 |pmid=25689926}}</ref> The main signs of this disease are: ], narrow bell-shaped ], coat-hanger-like ], ], enlarged ].<ref name=":0">{{Cite journal |last=Sakaria |first=Rishika P. |last2=Mostafavi |first2=Roya |last3=Miller |first3=Stephen |last4=Ward |first4=Jewell C. |last5=Pivnick |first5=Eniko K. |last6=Talati |first6=Ajay J. |date=2021-04 |title=Kagami-Ogata Syndrome: Case Series and Review of Literature |url=https://www.thieme-connect.de/products/ejournals/html/10.1055/s-0041-1727287#JR200146-3 |journal=American Journal of Perinatology Reports |language=en |volume=11 |issue=02 |pages=e65–e75 |doi=10.1055/s-0041-1727287 |issn=2157-6998}}</ref> Patients with KOS also have a facial dysmorphism, such as: ], excessive hair growth on forehead, depressed nasal bridge, ] with/or ], full cheeks, ], protruding ].<ref name=":0" /> '''Kagami-Ogata syndrome''' is a rare genetic disease that is caused by mutations on Maternal chromosome 14 or by paternal ](14).<ref>{{Cite journal |last1=Kagami |first1=Masayo |last2=Kurosawa |first2=Kenji |last3=Miyazaki |first3=Osamu |last4=Ishino |first4=Fumitoshi |last5=Matsuoka |first5=Kentaro |last6=Ogata |first6=Tsutomu |date=November 2015 |title=Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome) |journal=European Journal of Human Genetics: EJHG |volume=23 |issue=11 |pages=1488–1498 |doi=10.1038/ejhg.2015.13 |issn=1476-5438 |pmc=4613461 |pmid=25689926}}</ref> The main signs of this disease are: ], narrow bell-shaped ], coat-hanger-like ], ], enlarged ].<ref name=":0">{{Cite journal |last1=Sakaria |first1=Rishika P. |last2=Mostafavi |first2=Roya |last3=Miller |first3=Stephen |last4=Ward |first4=Jewell C. |last5=Pivnick |first5=Eniko K. |last6=Talati |first6=Ajay J. |date=April 2021 |title=Kagami-Ogata Syndrome: Case Series and Review of Literature |url=https://www.thieme-connect.de/products/ejournals/html/10.1055/s-0041-1727287#JR200146-3 |journal=American Journal of Perinatology Reports |language=en |volume=11 |issue=2 |pages=e65–e75 |doi=10.1055/s-0041-1727287 |pmid=34055463 |pmc=8159623 |issn=2157-6998}}</ref> Patients with KOS also have a facial dysmorphism, such as: ], excessive hair growth on forehead, depressed nasal bridge, ] with/or ], full cheeks, ], protruding ].<ref name=":0" />


{{Infobox medical condition {{Infobox medical condition
Line 28: Line 28:
* Webbed and short neck * Webbed and short neck
* Repisratory failure * Repisratory failure
* Polyhydroamnios * Polyhydroamnios


Frequent: Frequent:
Line 44: Line 44:
* Anomalies of the cardiovascular system * Anomalies of the cardiovascular system
* Hepatoblastoma * Hepatoblastoma
* Overgrowth * Overgrowth

* Postnatal growth retardation * Postnatal growth retardation


Line 53: Line 52:


== Cause == == Cause ==
There are three main mechanisms that can cause KOS:<ref name=":1">{{Cite journal |last=Prasasya |first=Rexxi |last2=Grotheer |first2=Kristen V |last3=Siracusa |first3=Linda D |last4=Bartolomei |first4=Marisa S |date=2020-09-30 |title=Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms |url=https://academic.oup.com/hmg/article/29/R1/R107/5863943 |journal=Human Molecular Genetics |volume=29 |issue=R1 |pages=R107–R116 |doi=10.1093/hmg/ddaa133 |issn=0964-6906}}</ref> There are three main mechanisms that can cause KOS:<ref name=":1">{{Cite journal |last1=Prasasya |first1=Rexxi |last2=Grotheer |first2=Kristen V |last3=Siracusa |first3=Linda D |last4=Bartolomei |first4=Marisa S |date=2020-09-30 |title=Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms |url=https://academic.oup.com/hmg/article/29/R1/R107/5863943 |journal=Human Molecular Genetics |volume=29 |issue=R1 |pages=R107–R116 |doi=10.1093/hmg/ddaa133 |pmid=32592473 |issn=0964-6906}}</ref>


# Paternal Unipaternal Disomy (in 55-70% cases). This can be caused by monosmy rescue. Usually Paternal UPD arises from ] in oocyte which causes ] of that chromosome. When such oocyte gets fertilised, conceptus will have 1 chromosome (in that case only one chromosome 14) and autosomal monosomy is fatal most of the times. In monosomy rescue, chromosome gets duplicated and it can cause problems in gene expression pattern (like in this case).<ref>{{Cite journal |last=Shaffer |first=Lisa G. |last2=Agan |first2=Noelle |last3=Goldberg |first3=James D. |last4=Ledbetter |first4=David H. |last5=Longshore |first5=John W. |last6=Cassidy |first6=Suzanne B. |date=2001-05 |title=American College of Medical Genetics Statement on Diagnostic Testing for Uniparental Disomy |url=https://www.nature.com/articles/gim200144 |journal=Genetics in Medicine |language=en |volume=3 |issue=3 |pages=206–211 |doi=10.1097/00125817-200105000-00011 |issn=1530-0366}}</ref><ref name=":1" /> # Paternal Unipaternal Disomy (in 55-70% cases). This can be caused by monosmy rescue. Usually Paternal UPD arises from ] in oocyte which causes ] of that chromosome. When such oocyte gets fertilised, conceptus will have 1 chromosome (in that case only one chromosome 14) and autosomal monosomy is fatal most of the times. In monosomy rescue, chromosome gets duplicated and it can cause problems in gene expression pattern (like in this case).<ref>{{Cite journal |last1=Shaffer |first1=Lisa G. |last2=Agan |first2=Noelle |last3=Goldberg |first3=James D. |last4=Ledbetter |first4=David H. |last5=Longshore |first5=John W. |last6=Cassidy |first6=Suzanne B. |date=May 2001 |title=American College of Medical Genetics Statement on Diagnostic Testing for Uniparental Disomy |journal=Genetics in Medicine |language=en |volume=3 |issue=3 |pages=206–211 |doi=10.1097/00125817-200105000-00011 |pmid=11388763 |pmc=3111049 |issn=1530-0366}}</ref><ref name=":1" />
# Epimutation on maternal chromosome 14 (in 10-20% cases). Epimutation doesn’t affect DNA, but rather by gene expression by chemical interactions.<ref>{{Cite web |date=2011-02-02 |title=https://www.cancer.gov/publications/dictionaries/cancer-terms/def/epimutation |url=https://www.cancer.gov/publications/dictionaries/cancer-terms/def/epimutation |access-date=2025-01-18 |website=www.cancer.gov |language=en}}</ref> In that case genes on maternal chromosome 14 gets methylated and subsequently deactivated.<ref>{{Cite journal |last=Ogata |first=Tsutomu |last2=Kagami |first2=Masayo |date=2016-02 |title=Kagami–Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region |url=https://www.nature.com/articles/jhg2015113 |journal=Journal of Human Genetics |language=en |volume=61 |issue=2 |pages=87–94 |doi=10.1038/jhg.2015.113 |issn=1435-232X}}</ref> # Epimutation on maternal chromosome 14 (in 10-20% cases). Epimutation doesn’t affect DNA, but rather by gene expression by chemical interactions.<ref>{{Cite web |date=2011-02-02 |title=https://www.cancer.gov/publications/dictionaries/cancer-terms/def/epimutation |url=https://www.cancer.gov/publications/dictionaries/cancer-terms/def/epimutation |access-date=2025-01-18 |website=www.cancer.gov |language=en}}</ref> In that case genes on maternal chromosome 14 gets methylated and subsequently deactivated.<ref name="Ogata 87–94">{{Cite journal |last1=Ogata |first1=Tsutomu |last2=Kagami |first2=Masayo |date=February 2016 |title=Kagami–Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region |journal=Journal of Human Genetics |language=en |volume=61 |issue=2 |pages=87–94 |doi=10.1038/jhg.2015.113 |pmid=26377239 |pmc=4771937 |issn=1435-232X}}</ref>
# Deletion of 14q32.2 (in 10-20% of cases). In that case part of the maternal chromosome 14 gets deleted.<ref>{{Citation |last=Ogata |first=Tsutomu |title=Kagami-Ogata Syndrome |date=1993 |work=GeneReviews® |editor-last=Adam |editor-first=Margaret P. |url=https://www.ncbi.nlm.nih.gov/books/NBK608430/#:~:text=Only%20a%20deletion%20of%20the,chromosome%2014%20of%20maternal%20origin. |access-date=2025-01-18 |place=Seattle (WA) |publisher=University of Washington, Seattle |pmid=39446997 |last2=Kagami |first2=Masayo |editor2-last=Feldman |editor2-first=Jerry |editor3-last=Mirzaa |editor3-first=Ghayda M. |editor4-last=Pagon |editor4-first=Roberta A.}}</ref> # Deletion of 14q32.2 (in 10-20% of cases). In that case part of the maternal chromosome 14 gets deleted.<ref>{{Citation |last1=Ogata |first1=Tsutomu |title=Kagami-Ogata Syndrome |date=1993 |work=GeneReviews® |editor-last=Adam |editor-first=Margaret P. |url=https://www.ncbi.nlm.nih.gov/books/NBK608430/#:~:text=Only%20a%20deletion%20of%20the,chromosome%2014%20of%20maternal%20origin. |access-date=2025-01-18 |place=Seattle (WA) |publisher=University of Washington, Seattle |pmid=39446997 |last2=Kagami |first2=Masayo |editor2-last=Feldman |editor2-first=Jerry |editor3-last=Mirzaa |editor3-first=Ghayda M. |editor4-last=Pagon |editor4-first=Roberta A.}}</ref>


The genes which mutation can cause KOS are located on 14q32.2 and these genes are: ], ], ].<ref>{{Cite journal |last=van der Werf |first=Ilse M. |last2=Buiting |first2=Karin |last3=Czeschik |first3=Christina |last4=Reyniers |first4=Edwin |last5=Vandeweyer |first5=Geert |last6=Vanhaesebrouck |first6=Piet |last7=Lüdecke |first7=Hermann-Josef |last8=Wieczorek |first8=Dagmar |last9=Horsthemke |first9=Bernhard |last10=Mortier |first10=Geert |last11=Leroy |first11=Jules G. |last12=Kooy |first12=R. Frank |date=2016-12 |title=Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome |url=https://www.nature.com/articles/ejhg201682 |journal=European Journal of Human Genetics |language=en |volume=24 |issue=12 |pages=1724–1729 |doi=10.1038/ejhg.2016.82 |issn=1476-5438}}</ref> The genes which mutation can cause KOS are located on 14q32.2 and these genes are: ], ], ].<ref>{{Cite journal |last1=van der Werf |first1=Ilse M. |last2=Buiting |first2=Karin |last3=Czeschik |first3=Christina |last4=Reyniers |first4=Edwin |last5=Vandeweyer |first5=Geert |last6=Vanhaesebrouck |first6=Piet |last7=Lüdecke |first7=Hermann-Josef |last8=Wieczorek |first8=Dagmar |last9=Horsthemke |first9=Bernhard |last10=Mortier |first10=Geert |last11=Leroy |first11=Jules G. |last12=Kooy |first12=R. Frank |date=December 2016 |title=Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome |url=https://www.nature.com/articles/ejhg201682 |journal=European Journal of Human Genetics |language=en |volume=24 |issue=12 |pages=1724–1729 |doi=10.1038/ejhg.2016.82 |issn=1476-5438}}</ref>


== Diagnosis == == Diagnosis ==
Diagnosis can be suspected by facial features and by coat-hanger angle, but it can be confirmed by genetic testing.<ref>{{Cite journal |last=Ogata |first=Tsutomu |last2=Kagami |first2=Masayo |date=2016-02 |title=Kagami–Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region |url=https://www.nature.com/articles/jhg2015113 |journal=Journal of Human Genetics |language=en |volume=61 |issue=2 |pages=87–94 |doi=10.1038/jhg.2015.113 |issn=1435-232X}}</ref> Diagnosis can be suspected by facial features and by coat-hanger angle, but it can be confirmed by genetic testing.<ref name="Ogata 87–94"/>


== Treatment == == Treatment ==
Unfortunately, this disease doesn’t have a cure, the management of that disease is symptomatic.<ref>{{Citation |last=Ogata |first=Tsutomu |title=Kagami-Ogata Syndrome |date=1993 |work=GeneReviews® |editor-last=Adam |editor-first=Margaret P. |url=https://www.ncbi.nlm.nih.gov/books/NBK608430/#:~:text=Clinical%20Description-,Kagami-Ogata%20syndrome%20is%20characterized%20by%20developmental%20delay,%20intellectual%20disability,(omphalocele%20and%20diastasis%20recti). |access-date=2025-01-18 |place=Seattle (WA) |publisher=University of Washington, Seattle |pmid=39446997 |last2=Kagami |first2=Masayo |editor2-last=Feldman |editor2-first=Jerry |editor3-last=Mirzaa |editor3-first=Ghayda M. |editor4-last=Pagon |editor4-first=Roberta A.}}</ref> Unfortunately, this disease doesn’t have a cure, the management of that disease is symptomatic.<ref>{{Citation |last1=Ogata |first1=Tsutomu |title=Kagami-Ogata Syndrome |date=1993 |work=GeneReviews® |editor-last=Adam |editor-first=Margaret P. |url=https://www.ncbi.nlm.nih.gov/books/NBK608430/#:~:text=Clinical%20Description-,Kagami-Ogata%20syndrome%20is%20characterized%20by%20developmental%20delay,%20intellectual%20disability,(omphalocele%20and%20diastasis%20recti). |access-date=2025-01-18 |place=Seattle (WA) |publisher=University of Washington, Seattle |pmid=39446997 |last2=Kagami |first2=Masayo |editor2-last=Feldman |editor2-first=Jerry |editor3-last=Mirzaa |editor3-first=Ghayda M. |editor4-last=Pagon |editor4-first=Roberta A.}}</ref>


== Prognosis == == Prognosis ==
This disease has a poor prognosis, because 30% of patients die shortly after birth or during early infancy.<ref>{{Cite journal |last=Hu |first=Junjie |last2=Zhang |first2=Ying |last3=Yang |first3=Yanmei |last4=Wang |first4=Liya |last5=Sun |first5=Yixi |last6=Dong |first6=Minyue |date=2022-08-11 |title=Case report: Prenatal diagnosis of Kagami–Ogata syndrome in a Chinese family |url=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.959666/full |journal=Frontiers in Genetics |language=English |volume=13 |doi=10.3389/fgene.2022.959666 |issn=1664-8021}}</ref> Although there are patients who are adults and one of the oldest patient is 35 (at the article publication time).<ref>{{Cite journal |last=Smith |first=Christopher S. |last2=Riddell |first2=Madison |last3=Badalato |first3=Lauren |last4=Au |first4=Ping Yee Billie |date=2024 |title=Adults with paternal UPD14 causing Kagami–Ogata syndrome: Case report and review of the literature |url=https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.63625 |journal=American Journal of Medical Genetics Part A |language=en |volume=194 |issue=9 |pages=e63625 |doi=10.1002/ajmg.a.63625 |issn=1552-4833}}</ref> This disease has a poor prognosis, because 30% of patients die shortly after birth or during early infancy.<ref>{{Cite journal |last1=Hu |first1=Junjie |last2=Zhang |first2=Ying |last3=Yang |first3=Yanmei |last4=Wang |first4=Liya |last5=Sun |first5=Yixi |last6=Dong |first6=Minyue |date=2022-08-11 |title=Case report: Prenatal diagnosis of Kagami–Ogata syndrome in a Chinese family |journal=Frontiers in Genetics |language=English |volume=13 |doi=10.3389/fgene.2022.959666 |doi-access=free |pmid=36035167 |issn=1664-8021}}</ref> Although there are patients who are adults and one of the oldest patient is 35 (at the article publication time).<ref>{{Cite journal |last1=Smith |first1=Christopher S. |last2=Riddell |first2=Madison |last3=Badalato |first3=Lauren |last4=Au |first4=Ping Yee Billie |date=2024 |title=Adults with paternal UPD14 causing Kagami–Ogata syndrome: Case report and review of the literature |url=https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.63625 |journal=American Journal of Medical Genetics Part A |language=en |volume=194 |issue=9 |pages=e63625 |doi=10.1002/ajmg.a.63625 |issn=1552-4833}}</ref>


== History == == History ==
KOS was first described by Wang ''et al'' in 1991.<ref>{{Cite journal |last=Wang |first=J C |last2=Passage |first2=M B |last3=Yen |first3=P H |last4=Shapiro |first4=L J |last5=Mohandas |first5=T K |date=1991 Jun |title=Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier |url=https://pmc.ncbi.nlm.nih.gov/articles/PMC1683099/ |journal=American Journal of Human Genetics |language=en |volume=48 |issue=6 |archive-url=http://web.archive.org/web/20250107151805/https://pmc.ncbi.nlm.nih.gov/articles/PMC1683099/ |archive-date=2025-01-07}}</ref> But the name was coined from Masayo Kagami and Tsutomu Ogata who described it in details.<ref>{{Cite journal |last=Kagami |first=Masayo |last2=Sekita |first2=Yoichi |last3=Nishimura |first3=Gen |last4=Irie |first4=Masahito |last5=Kato |first5=Fumiko |last6=Okada |first6=Michiyo |last7=Yamamori |first7=Shunji |last8=Kishimoto |first8=Hiroshi |last9=Nakayama |first9=Masahiro |last10=Tanaka |first10=Yukichi |last11=Matsuoka |first11=Kentarou |last12=Takahashi |first12=Tsutomu |last13=Noguchi |first13=Mika |last14=Tanaka |first14=Yoko |last15=Masumoto |first15=Kouji |date=2008-02 |title=Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes |url=https://www.nature.com/articles/ng.2007.56 |journal=Nature Genetics |language=en |volume=40 |issue=2 |pages=237–242 |doi=10.1038/ng.2007.56 |issn=1546-1718}}</ref> KOS was first described by Wang ''et al'' in 1991.<ref>{{Cite journal |last1=Wang |first1=J C |last2=Passage |first2=M B |last3=Yen |first3=P H |last4=Shapiro |first4=L J |last5=Mohandas |first5=T K |date=Jun 1991 |title=Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier |journal=American Journal of Human Genetics |language=en |volume=48 |issue=6 |pages=1069–1074 |pmid=2035528 |pmc=1683099 }}</ref> But the name was coined from Masayo Kagami and Tsutomu Ogata who described it in details.<ref>{{Cite journal |last1=Kagami |first1=Masayo |last2=Sekita |first2=Yoichi |last3=Nishimura |first3=Gen |last4=Irie |first4=Masahito |last5=Kato |first5=Fumiko |last6=Okada |first6=Michiyo |last7=Yamamori |first7=Shunji |last8=Kishimoto |first8=Hiroshi |last9=Nakayama |first9=Masahiro |last10=Tanaka |first10=Yukichi |last11=Matsuoka |first11=Kentarou |last12=Takahashi |first12=Tsutomu |last13=Noguchi |first13=Mika |last14=Tanaka |first14=Yoko |last15=Masumoto |first15=Kouji |date=February 2008 |title=Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes |url=https://www.nature.com/articles/ng.2007.56 |journal=Nature Genetics |language=en |volume=40 |issue=2 |pages=237–242 |doi=10.1038/ng.2007.56 |pmid=18176563 |issn=1546-1718}}</ref>


== Prevalence == == Prevalence ==
According to one study, the prevalence of that disease is 1/1000000 and over 80 case had been reported.<ref>{{Cite journal |last=Kilich |first=Gonench |last2=Hassey |first2=Kelly |last3=Behrens |first3=Edward M. |last4=Falk |first4=Marni |last5=Vanderver |first5=Adeline |last6=Rader |first6=Daniel J. |last7=Cahill |first7=Patrick J. |last8=Raper |first8=Anna |last9=Zhang |first9=Zhe |last10=Westerfer |first10=Dawn |last11=Jadhav |first11=Tanaya |last12=Conlin |first12=Laura |last13=Izumi |first13=Kosuke |last14=Rajagopalan |first14=Ramakrishnan |last15=Sullivan |first15=Kathleen E. |date=2024-01-11 |title=Kagami Ogata syndrome: a small deletion refines critical region for imprinting |url=https://www.nature.com/articles/s41525-023-00389-2 |journal=npj Genomic Medicine |language=en |volume=9 |issue=1 |pages=1–6 |doi=10.1038/s41525-023-00389-2 |issn=2056-7944}}</ref> According to one study, the prevalence of that disease is less than a 1/1000000 and over 80 case had been reported.<ref>{{Cite journal |last1=Kilich |first1=Gonench |last2=Hassey |first2=Kelly |last3=Behrens |first3=Edward M. |last4=Falk |first4=Marni |last5=Vanderver |first5=Adeline |last6=Rader |first6=Daniel J. |last7=Cahill |first7=Patrick J. |last8=Raper |first8=Anna |last9=Zhang |first9=Zhe |last10=Westerfer |first10=Dawn |last11=Jadhav |first11=Tanaya |last12=Conlin |first12=Laura |last13=Izumi |first13=Kosuke |last14=Rajagopalan |first14=Ramakrishnan |last15=Sullivan |first15=Kathleen E. |date=2024-01-11 |title=Kagami Ogata syndrome: a small deletion refines critical region for imprinting |journal=npj Genomic Medicine |language=en |volume=9 |issue=1 |page=5 |doi=10.1038/s41525-023-00389-2 |pmid=38212313 |pmc=10784583 |issn=2056-7944}}</ref>


== References == == References ==
<references /> <references />

] ]
] ]

Latest revision as of 03:40, 19 January 2025

Kagami-Ogata syndrome is a rare genetic disease that is caused by mutations on Maternal chromosome 14 or by paternal UPD(14). The main signs of this disease are: polyhydramnios, narrow bell-shaped thorax, coat-hanger-like ribs, abdominal wall defect, enlarged placenta. Patients with KOS also have a facial dysmorphism, such as: frontal bossing, excessive hair growth on forehead, depressed nasal bridge, micrognathia with/or retrognathia, full cheeks, webbed neck, protruding philtrum.

Medical condition
Kagami-Ogata Syndrome
Other namesKOS
A photo showing girl who has a Kagami-Ogata Syndrome. Note: Prominent Philtrum, Full cheeks, Pursed Lips.
SpecialtyMedical Genetics

Symptoms

The symptoms of this disease are:

Very frequent:

  • Anverted nares
  • Bell-shapes thorax
  • Protruding Philtrum
  • Coat hanger-like ribs
  • Depressed nasal bridge
  • Dysphagia
  • Full cheeks
  • Intellectual disability
  • Enlarged placenta
  • Joint mobility limitation
  • Micrognathia
  • Webbed and short neck
  • Repisratory failure
  • Polyhydroamnios

Frequent:

  • Puckered lips
  • Coxa valga
  • Small eye openings
  • Frontal bossing and hirsutism
  • Premature birth
  • Omphalocele
  • Kyphoscoliosis

Occasional:

  • Anomalies of the cardiovascular system
  • Hepatoblastoma
  • Overgrowth
  • Postnatal growth retardation

Very rare:

  • Seizures

Cause

There are three main mechanisms that can cause KOS:

  1. Paternal Unipaternal Disomy (in 55-70% cases). This can be caused by monosmy rescue. Usually Paternal UPD arises from nondisjunction in oocyte which causes nullisomy of that chromosome. When such oocyte gets fertilised, conceptus will have 1 chromosome (in that case only one chromosome 14) and autosomal monosomy is fatal most of the times. In monosomy rescue, chromosome gets duplicated and it can cause problems in gene expression pattern (like in this case).
  2. Epimutation on maternal chromosome 14 (in 10-20% cases). Epimutation doesn’t affect DNA, but rather by gene expression by chemical interactions. In that case genes on maternal chromosome 14 gets methylated and subsequently deactivated.
  3. Deletion of 14q32.2 (in 10-20% of cases). In that case part of the maternal chromosome 14 gets deleted.

The genes which mutation can cause KOS are located on 14q32.2 and these genes are: MEG3, RTL1, MEG8.

Diagnosis

Diagnosis can be suspected by facial features and by coat-hanger angle, but it can be confirmed by genetic testing.

Treatment

Unfortunately, this disease doesn’t have a cure, the management of that disease is symptomatic.

Prognosis

This disease has a poor prognosis, because 30% of patients die shortly after birth or during early infancy. Although there are patients who are adults and one of the oldest patient is 35 (at the article publication time).

History

KOS was first described by Wang et al in 1991. But the name was coined from Masayo Kagami and Tsutomu Ogata who described it in details.

Prevalence

According to one study, the prevalence of that disease is less than a 1/1000000 and over 80 case had been reported.

References

  1. Kagami, Masayo; Kurosawa, Kenji; Miyazaki, Osamu; Ishino, Fumitoshi; Matsuoka, Kentaro; Ogata, Tsutomu (November 2015). "Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome)". European Journal of Human Genetics: EJHG. 23 (11): 1488–1498. doi:10.1038/ejhg.2015.13. ISSN 1476-5438. PMC 4613461. PMID 25689926.
  2. ^ Sakaria, Rishika P.; Mostafavi, Roya; Miller, Stephen; Ward, Jewell C.; Pivnick, Eniko K.; Talati, Ajay J. (April 2021). "Kagami-Ogata Syndrome: Case Series and Review of Literature". American Journal of Perinatology Reports. 11 (2): e65 – e75. doi:10.1055/s-0041-1727287. ISSN 2157-6998. PMC 8159623. PMID 34055463.
  3. "Orphanet: Clinical signs and symptoms". www.orpha.net. Retrieved 2025-01-18.
  4. ^ Prasasya, Rexxi; Grotheer, Kristen V; Siracusa, Linda D; Bartolomei, Marisa S (2020-09-30). "Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms". Human Molecular Genetics. 29 (R1): R107 – R116. doi:10.1093/hmg/ddaa133. ISSN 0964-6906. PMID 32592473.
  5. Shaffer, Lisa G.; Agan, Noelle; Goldberg, James D.; Ledbetter, David H.; Longshore, John W.; Cassidy, Suzanne B. (May 2001). "American College of Medical Genetics Statement on Diagnostic Testing for Uniparental Disomy". Genetics in Medicine. 3 (3): 206–211. doi:10.1097/00125817-200105000-00011. ISSN 1530-0366. PMC 3111049. PMID 11388763.
  6. "https://www.cancer.gov/publications/dictionaries/cancer-terms/def/epimutation". www.cancer.gov. 2011-02-02. Retrieved 2025-01-18. {{cite web}}: External link in |title= (help)
  7. ^ Ogata, Tsutomu; Kagami, Masayo (February 2016). "Kagami–Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region". Journal of Human Genetics. 61 (2): 87–94. doi:10.1038/jhg.2015.113. ISSN 1435-232X. PMC 4771937. PMID 26377239.
  8. Ogata, Tsutomu; Kagami, Masayo (1993), Adam, Margaret P.; Feldman, Jerry; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.), "Kagami-Ogata Syndrome", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 39446997, retrieved 2025-01-18
  9. van der Werf, Ilse M.; Buiting, Karin; Czeschik, Christina; Reyniers, Edwin; Vandeweyer, Geert; Vanhaesebrouck, Piet; Lüdecke, Hermann-Josef; Wieczorek, Dagmar; Horsthemke, Bernhard; Mortier, Geert; Leroy, Jules G.; Kooy, R. Frank (December 2016). "Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome". European Journal of Human Genetics. 24 (12): 1724–1729. doi:10.1038/ejhg.2016.82. ISSN 1476-5438.
  10. Ogata, Tsutomu; Kagami, Masayo (1993), Adam, Margaret P.; Feldman, Jerry; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.), "Kagami-Ogata Syndrome", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 39446997, retrieved 2025-01-18
  11. Hu, Junjie; Zhang, Ying; Yang, Yanmei; Wang, Liya; Sun, Yixi; Dong, Minyue (2022-08-11). "Case report: Prenatal diagnosis of Kagami–Ogata syndrome in a Chinese family". Frontiers in Genetics. 13. doi:10.3389/fgene.2022.959666. ISSN 1664-8021. PMID 36035167.
  12. Smith, Christopher S.; Riddell, Madison; Badalato, Lauren; Au, Ping Yee Billie (2024). "Adults with paternal UPD14 causing Kagami–Ogata syndrome: Case report and review of the literature". American Journal of Medical Genetics Part A. 194 (9): e63625. doi:10.1002/ajmg.a.63625. ISSN 1552-4833.
  13. Wang, J C; Passage, M B; Yen, P H; Shapiro, L J; Mohandas, T K (Jun 1991). "Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier". American Journal of Human Genetics. 48 (6): 1069–1074. PMC 1683099. PMID 2035528.
  14. Kagami, Masayo; Sekita, Yoichi; Nishimura, Gen; Irie, Masahito; Kato, Fumiko; Okada, Michiyo; Yamamori, Shunji; Kishimoto, Hiroshi; Nakayama, Masahiro; Tanaka, Yukichi; Matsuoka, Kentarou; Takahashi, Tsutomu; Noguchi, Mika; Tanaka, Yoko; Masumoto, Kouji (February 2008). "Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes". Nature Genetics. 40 (2): 237–242. doi:10.1038/ng.2007.56. ISSN 1546-1718. PMID 18176563.
  15. Kilich, Gonench; Hassey, Kelly; Behrens, Edward M.; Falk, Marni; Vanderver, Adeline; Rader, Daniel J.; Cahill, Patrick J.; Raper, Anna; Zhang, Zhe; Westerfer, Dawn; Jadhav, Tanaya; Conlin, Laura; Izumi, Kosuke; Rajagopalan, Ramakrishnan; Sullivan, Kathleen E. (2024-01-11). "Kagami Ogata syndrome: a small deletion refines critical region for imprinting". npj Genomic Medicine. 9 (1): 5. doi:10.1038/s41525-023-00389-2. ISSN 2056-7944. PMC 10784583. PMID 38212313.
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