Kaufman oculocerebrofacial syndrome

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][3] It was characterized in 1971;[5] eight cases had been identified as of 1995.[6] To date, the amount of cases is disputed, with sources claiming the number ranges from 14 to 31.[7][8]

Kaufman oculocerebrofacial syndrome
Other namesBlepharophimosis-ptosis-intellectual disability syndrome
Kaufman oculocerebrofacial syndrome has an autosomal recessive pattern of inheritance.
SymptomsArachnodactyly[1]
CausesMutation in the UBE3B gene[2]
Diagnostic methodGrowth assessment, Thyroid function evaluation[3][4]
TreatmentThyroid hormone replacement, Speech therapy[3]

Symptoms and signs

The signs and symptoms of Kaufman oculocerebrofacial syndrome are consistent with the following:[1][9]

Cause

The cause of this condition is apparently due to mutation in the UBE3B gene and is inherited via autosomal recessive manner.[2] This gene is located at molecular location- base pairs 109,477,410 to 109,543,628 and position 24.11 on chromosome 12.[10]

Genetics
Ubiquitin protein

The mechanism (or pathogenesis) of Kaufman oculocerebrofacial syndrome appears to begin due to a mutation in the E3 ubiquitin protein ligase. (UBE3B). [11]

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.[12][10]

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.[10]

Diagnosis
Smith–Lemli–Opitz syndrome(or 7-dehydrocholesterol reductase deficiency)

The diagnosis of Kaufman oculocerebrofacial syndrome can be achieved via molecular testing approaches. Additionally to ascertain if the individual has the condition:[3][4]

Differential diagnosis

Kaufman oculocerebrofacial syndrome differential diagnosis consists of:[3]

Management

Treatment for this condition entails surveillance of growth and contractures. Furthermore, the following are treatment options:[3]

See also

References
  1. "Kaufman oculocerebrofacial syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-07-29.
  2. "OMIM Entry - # 244450 - KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS". omim.org. Retrieved 21 October 2017.
  3. Basel-Vanagaite, Lina; Borck, Guntram (1993). "Kaufman Oculocerebrofacial Syndrome". In Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Ledbetter, Nikki; Mefford, Heather C. (eds.). GeneReviews. Seattle (WA): University of Washington, Seattle. PMID 27763745.update 2016
  4. "Kaufman Oculocerebrofacial Syndrome, Sequencing UBE3B Gene - Tests - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 21 October 2017.
  5. Kaufman R, Rimoin D, Prensky A, Sly W (1971). "An oculocerebrofacial syndrome". Birth Defects Orig Artic Ser. 7 (1): 135–138. PMID 5006210.
  6. Briscioli V, Manoukian S, Selicorni A, Livini E, Lalatta F (1995). "Kaufman oculocerebrofacial syndrome in a girl of 15 years". Am J Med Genet. 58 (1): 21–3. doi:10.1002/ajmg.1320580106. PMID 7573151.
  7. "Kaufman Oculocerebrofacial Syndrome". MedlinePlus. Retrieved 8 July 2023.
  8. "Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum". Karger. Retrieved September 21, 2023.
  9. Winter, Robin M.; Baraitser, Michael (2013). Multiple Congenital Anomalies: A Diagnostic Compendium. Springer. p. 327. ISBN 9781489931092. Retrieved 21 October 2017.
  10. Reference, Genetics Home. "UBE3B gene". Genetics Home Reference. Retrieved 21 October 2017.
  11. Reference, Genetics Home. "Kaufman oculocerebrofacial syndrome". Genetics Home Reference. Retrieved 2017-07-29.
  12. Nandi, Dipankar; Tahiliani, Pankaj; Kumar, Anujith; Chandu, Dilip (2006). "The ubiquitin-proteasome system" (PDF). Journal of Biosciences. 31 (1): 137–155. doi:10.1007/bf02705243. ISSN 0250-5991. PMID 16595883. S2CID 21603835.

Further reading
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.