Kaufman oculocerebrofacial syndrome explained

Synonyms:Blepharophimosis-ptosis-intellectual disability syndrome
Kaufman oculocerebrofacial syndrome
Symptoms:Arachnodactyly
Causes:Mutation in the UBE3B gene
Diagnosis:Growth assessment, Thyroid function evaluation
Treatment:Thyroid hormone replacement, Speech therapy

Kaufman oculocerebrofacial syndrome, also known as blepharophimosis-ptosis-intellectual disability syndrome, is an extremely rare autosomal recessive congenital disorder characterized by severe mental retardation, brachycephaly, upslanting palpebral fissures, eye abnormalities, and highly arched palate.[1] [2] It was characterized in 1971;[3] eight cases had been identified as of 1995.[4] To date, the amount of cases is disputed, with sources claiming the number ranges from 14 to 31.[5] [6]

Symptoms and signs

The signs and symptoms of Kaufman oculocerebrofacial syndrome are consistent with the following:[1] [7]

Cause

The cause of this condition is apparently due to mutation in the UBE3B gene and is inherited via autosomal recessive manner.[8] This gene is located at molecular location- base pairs 109,477,410 to 109,543,628 and position 24.11 on chromosome 12.[9]

Genetics

The mechanism (or pathogenesis) of Kaufman oculocerebrofacial syndrome appears to begin due to a mutation in the E3 ubiquitin protein ligase. (UBE3B).[10]

One finds that the normal mechanism of UBE3B gene is important in the ubiquitin-proteasome system. The aforementioned system helps to remove proteins that have degraded.[11] [9]

However, when not working properly due to the mutation in the UBE3B gene(at least 15 mutations) results in an unstable UBE3B protein which has a negative effect on the ubiquitin-proteasome system.[9]

Diagnosis

The diagnosis of Kaufman oculocerebrofacial syndrome can be achieved via molecular testing approaches. Additionally to ascertain if the individual has the condition:[2] [12]

Differential diagnosis

Kaufman oculocerebrofacial syndrome differential diagnosis consists of:[2]

Management

Treatment for this condition entails surveillance of growth and contractures. Furthermore, the following are treatment options:[2]

See also

Further reading

External links

Notes and References

  1. Web site: Kaufman oculocerebrofacial syndrome Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. rarediseases.info.nih.gov. en. 2017-07-29. 2017-07-29. https://web.archive.org/web/20170729064328/https://rarediseases.info.nih.gov/diseases/3084/kaufman-oculocerebrofacial-syndrome. live.
  2. Book: https://www.ncbi.nlm.nih.gov/books/NBK390670/. GeneReviews. Basel-Vanagaite. Lina. Borck. Guntram. 1993. University of Washington, Seattle. Pagon. Roberta A.. Seattle (WA). 27763745. Adam. Margaret P.. Ardinger. Holly H.. Wallace. Stephanie E.. Amemiya. Anne. Bean. Lora J.H.. Bird. Thomas D.. Ledbetter. Nikki. Mefford. Heather C.. Kaufman Oculocerebrofacial Syndrome. update 2016
  3. Kaufman R, Rimoin D, Prensky A, Sly W . An oculocerebrofacial syndrome. . Birth Defects Orig Artic Ser . 7 . 1 . 135–138 . 1971 . 5006210.
  4. Briscioli V, Manoukian S, Selicorni A, Livini E, Lalatta F . Kaufman oculocerebrofacial syndrome in a girl of 15 years. . Am J Med Genet . 58 . 1 . 21–3 . 1995 . 7573151 . 10.1002/ajmg.1320580106.
  5. Web site: Kaufman Oculocerebrofacial Syndrome . MedlinePlus . 8 July 2023 . 8 July 2023 . https://web.archive.org/web/20230708230531/https://medlineplus.gov/genetics/condition/kaufman-oculocerebrofacial-syndrome/ . live .
  6. Web site: Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum . Karger . September 21, 2023.
  7. Book: Winter. Robin M.. Baraitser. Michael. Multiple Congenital Anomalies: A Diagnostic Compendium. 2013. Springer. 9781489931092. 327. 21 October 2017. en. 8 July 2023. https://web.archive.org/web/20230708230041/https://books.google.com/books?id=2XP1BwAAQBAJ&q=Kaufman+oculocerebrofacial+syndrome+treatment&pg=PA327. live.
  8. Web site: OMIM Entry - # 244450 - KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS. omim.org. 21 October 2017. en-us. 5 March 2017. https://web.archive.org/web/20170305002230/https://omim.org/entry/244450. live.
  9. Web site: Reference. Genetics Home. UBE3B gene. Genetics Home Reference. 21 October 2017. en. 22 October 2017. https://web.archive.org/web/20171022032952/https://ghr.nlm.nih.gov/gene/UBE3B#location. live.
  10. Web site: Kaufman oculocerebrofacial syndrome. Reference. Genetics Home. Genetics Home Reference. en. 2017-07-29. 2017-07-28. https://web.archive.org/web/20170728020552/https://ghr.nlm.nih.gov/condition/kaufman-oculocerebrofacial-syndrome#genes. live.
  11. Nandi. Dipankar. Tahiliani. Pankaj. Kumar. Anujith. Chandu. Dilip. The ubiquitin-proteasome system. Journal of Biosciences. 2006. 31. 1. 137–155. 0250-5991. 10.1007/bf02705243. 16595883. 21603835. 2019-08-04. 2021-08-30. https://web.archive.org/web/20210830234502/http://eprints.iisc.ac.in/6416/1/The_ubiquitin-proteasome_system.pdf. live.
  12. Web site: Kaufman Oculocerebrofacial Syndrome, Sequencing UBE3B Gene - Tests - GTR - NCBI. www.ncbi.nlm.nih.gov. 21 October 2017. en. 24 January 2018. https://web.archive.org/web/20180124144254/https://www.ncbi.nlm.nih.gov/gtr/tests/555070/. live.

This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Kaufman oculocerebrofacial syndrome".

Except where otherwise indicated, Everything.Explained.Today is © Copyright 2009-2024, A B Cryer, All Rights Reserved. Cookie policy.