Medicine:Kaufman oculocerebrofacial syndrome
| Kaufman oculocerebrofacial syndrome | |
|---|---|
| Other names | Blepharophimosis-ptosis-intellectual disability syndrome |
 | |
| Kaufman oculocerebrofacial syndrome has an autosomal recessive pattern of inheritance. | |
| Symptoms | Arachnodactyly[1] |
| Causes | Mutation in the UBE3B gene[2] |
| Diagnostic method | Growth assessment, Thyroid function evaluation[3][4] |
| Treatment | Thyroid 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]
- High palate
- Microcephaly
- Constipation
- Intellectual disability
- Muscular hypotonia
- Nystagmus
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
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
The diagnosis of Kaufman oculocerebrofacial syndrome can be achieved via molecular testing approaches. Additionally to ascertain if the individual has the condition:[3][4]
- Growth assessment
- Thyroid function evaluation
- Kidney ultrasound
- Echocardiogram
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]
- Thyroid hormone replacement
- Speech therapy
- Hearing aids
See also
References
- ↑ 1.0 1.1 1.2 "Kaufman oculocerebrofacial syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" (in en). https://rarediseases.info.nih.gov/diseases/3084/kaufman-oculocerebrofacial-syndrome.
- ↑ 2.0 2.1 "OMIM Entry - # 244450 - KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS" (in en-us). https://omim.org/entry/244450.
- ↑ 3.0 3.1 3.2 3.3 3.4 3.5 Basel-Vanagaite, Lina; Borck, Guntram (1993). "Kaufman Oculocerebrofacial Syndrome". in Pagon, Roberta A.. GeneReviews. Seattle (WA): University of Washington, Seattle. https://www.ncbi.nlm.nih.gov/books/NBK390670/.update 2016
- ↑ 4.0 4.1 "Kaufman Oculocerebrofacial Syndrome, Sequencing UBE3B Gene - Tests - GTR - NCBI" (in en). https://www.ncbi.nlm.nih.gov/gtr/tests/555070/.
- ↑ "An oculocerebrofacial syndrome.". Birth Defects Orig Artic Ser 7 (1): 135–138. 1971. PMID 5006210.
- ↑ "Kaufman oculocerebrofacial syndrome in a girl of 15 years.". Am J Med Genet 58 (1): 21–3. 1995. doi:10.1002/ajmg.1320580106. PMID 7573151.
- ↑ "Kaufman Oculocerebrofacial Syndrome". https://medlineplus.gov/genetics/condition/kaufman-oculocerebrofacial-syndrome/.
- ↑ "Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum". https://karger.com/msy/article/12/2/106/205120/Two-Siblings-with-Kaufman-Oculocerebrofacial.
- ↑ Winter, Robin M.; Baraitser, Michael (2013) (in en). Multiple Congenital Anomalies: A Diagnostic Compendium. Springer. p. 327. ISBN 9781489931092. https://books.google.com/books?id=2XP1BwAAQBAJ&q=Kaufman+oculocerebrofacial+syndrome+treatment&pg=PA327. Retrieved 21 October 2017.
- ↑ 10.0 10.1 10.2 Reference, Genetics Home. "UBE3B gene" (in en). https://ghr.nlm.nih.gov/gene/UBE3B#location.
- ↑ Reference, Genetics Home. "Kaufman oculocerebrofacial syndrome" (in en). https://ghr.nlm.nih.gov/condition/kaufman-oculocerebrofacial-syndrome#genes.
- ↑ 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. http://eprints.iisc.ac.in/6416/1/The_ubiquitin-proteasome_system.pdf.
Further reading
- Pryse-Phillips, William (2009) (in en). Companion to clinical neurology (3rd ed.). Oxford: Oxford University Press. ISBN 9780195367720. https://books.google.com/books?id=rlZnDAAAQBAJ&q=Kaufman+oculocerebrofacial+syndrome+nih&pg=PA548. Retrieved 29 July 2017.
- al.], Victor A. McKusick; with the assistance of Stylianos E. Antonarakis ... [et (1997) (in en). Mendelian inheritance in man : a catalog of human genes ... (12. ed.). Baltimore, Md.: Johns Hopkins. ISBN 9780801857423. https://books.google.com/books?id=7afvNWFhpZAC&q=Kaufman+oculocerebrofacial+syndrome+nih&pg=PA2379. Retrieved 29 July 2017.
External links
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