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]

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]

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. 1 2 3 "Kaufman oculocerebrofacial syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-07-29.
  2. 1 2 "OMIM Entry - # 244450 - KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS". omim.org. Retrieved 21 October 2017.
  3. 1 2 3 4 5 6 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. 1 2 "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. 1 2 3 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

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