Kagami-Ogata syndrome

Last updated

Kagami-Ogata Syndrome
Other namesKOS
2-different-patients-with-KOS.webp
A photo showing 2 patients who have a Kagami-Ogata Syndrome. Note: Prominent Philtrum, Full cheeks, Pursed Lips.
Specialty Medical Genetics

Kagami-Ogata syndrome is a rare genetic disease that is caused by mutations on maternal chromosome 14 or by paternal UPD(14). [1] The main signs of this disease are: polyhydramnios, narrow bell-shaped thorax, coat-hanger-like ribs, abdominal wall defect, enlarged placenta. [2] 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. [2]

Contents

Symptoms

The symptoms of this disease are: [3]

Very frequent:

Frequent:

Occasional:

Very rare:

Cause

There are three main mechanisms that can cause KOS: [4]

  1. Paternal Unipaternal Disomy (in 55-70% cases). This can be caused by monosomy 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). [5] [4]
  2. Epimutation on maternal chromosome 14 (in 10-20% cases). Epimutation doesn’t affect DNA, but rather by gene expression by chemical interactions. [6] In that case genes on maternal chromosome 14 gets methylated and subsequently deactivated. [7]
  3. Deletion of 14q32.2 (in 10-20% of cases). In that case part of the maternal chromosome 14 gets deleted. [8]

The genes which mutation can cause KOS are located on 14q32.2 and these genes are: MEG3, RTL1, MEG8. [9]

Diagnosis

Diagnosis can be suspected by facial features and by coat-hanger angle, but it can be confirmed by genetic testing. [7]

Treatment

Unfortunately, this disease doesn’t have a cure, the management of that disease is symptomatic. [10]

Prognosis

This disease has a poor prognosis, because 30% of patients die shortly after birth or during early infancy. [11] Although there are patients who are adults and one of the oldest patient is 35 (at the article publication time). [12]

History

KOS was first described by Wang et al in 1991. [13] But the name was coined from Masayo Kagami and Tsutomu Ogata who described it in details. [14]

Prevalence

According to one study, the prevalence of that disease is less than a 1/1000000 and over 80 case had been reported. [15]

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. 23 (11): 1488–1498. doi:10.1038/ejhg.2015.13. ISSN   1476-5438. PMC   4613461 . PMID   25689926.
  2. 1 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 January 18, 2025.
  4. 1 2 Prasasya, Rexxi; Grotheer, Kristen V; Siracusa, Linda D; Bartolomei, Marisa S (September 30, 2020). "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. PMC   8325017 . 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. ↑ "Epimutation". www.cancer.gov. February 2, 2011. Retrieved January 18, 2025.
  7. 1 2 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 January 18, 2025
  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. PMC   5117931 . PMID   27406249.
  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 January 18, 2025
  11. ↑ Hu, Junjie; Zhang, Ying; Yang, Yanmei; Wang, Liya; Sun, Yixi; Dong, Minyue (August 11, 2022). "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. PMC   9410364 . 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. PMID   38741340.
  13. ↑ Wang, J C; Passage, M B; Yen, P H; Shapiro, L J; Mohandas, T K (June 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. (January 11, 2024). "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.
This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.