Kaufman oculocerebrofacial syndrome

Kaufman oculocerebrofacial syndrome
Synonyms Blepharophimosis-ptosis-intellectual disability syndrome
Kaufman oculocerebrofacial syndrome has an autosomal recessive pattern of inheritance.
Causes Mutation in the UBE3B gene[1]
Diagnostic method Growth assessment, Thyroid function evaluation[2][3]
Treatment Thyroid hormone replacement, Speech therapy[2]

Kaufman oculocerebrofacial syndrome is an autosomal recessive congenital disorder characterized by mental retardation, brachycephaly, upslanting palpebral fissures, eye abnormalities, and highly arched palate.[4][2] It was characterized in 1971;[5] eight cases had been identified as of 1995.[6]

Symptoms and signs

The signs and symptoms of Kaufman oculocerebrofacial syndrome are consistent with the following:[4][7]

Cause

The cause of this condition is apparently due to mutation in the UBE3B gene and is inherited via autosomal recessive manner.[1] This gene is located at molecular location- base pairs 109,477,410 to 109,543,628 and position 24.11 on chromosome 12.[8]

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). [9]

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.[10][8] 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.[8]

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:[2][3]

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

References

  1. 1 2 "OMIM Entry - # 244450 - KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS". omim.org. Retrieved 21 October 2017.
  2. 1 2 3 4 5 6 Basel-Vanagaite, Lina; Borck, Guntram (1993). Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora JH; Bird, Thomas D.; Ledbetter, Nikki; Mefford, Heather C., eds. GeneReviews(®). Seattle (WA): University of Washington, Seattle. PMID 27763745. update 2016
  3. 1 2 "Kaufman Oculocerebrofacial Syndrome , Sequencing UBE3B Gene - Tests - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 21 October 2017.
  4. 1 2 "Kaufman oculocerebrofacial syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-07-29.
  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. ↑ Winter, Robin M.; Baraitser, Michael (2013). Multiple Congenital Anomalies: A Diagnostic Compendium. Springer. p. 327. ISBN 9781489931092. Retrieved 21 October 2017.
  8. 1 2 3 Reference, Genetics Home. "UBE3B gene". Genetics Home Reference. Retrieved 21 October 2017.
  9. ↑ Reference, Genetics Home. "Kaufman oculocerebrofacial syndrome". Genetics Home Reference. Retrieved 2017-07-29.
  10. ↑ Nandi, Dipankar; Tahiliani, Pankaj; Kumar, Anujith; Chandu, Dilip (2006). "The ubiquitin-proteasome system". Journal of Biosciences. 31 (1): 137–155. doi:10.1007/bf02705243. ISSN 0250-5991. PMID 16595883.

Further reading

  • Pryse-Phillips, William (2009). Companion to clinical neurology (3rd ed.). Oxford: Oxford University Press. ISBN 9780195367720. Retrieved 29 July 2017.
  • al.], Victor A. McKusick ; with the assistance of Stylianos E. Antonarakis ... [et (1997). Mendelian inheritance in man : a catalog of human genes ... (12. ed.). Baltimore, Md.: Johns Hopkins. ISBN 9780801857423. Retrieved 29 July 2017.
Classification
External resources
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