Kaufman oculocerebrofacial syndrome, also known as blepharophimosis-ptosis-intellectual disability syndrome, is an extremely rare autosomal recessive congenital disorder characterized by severe intellectual disability, brachycephaly, upslanting palpebral fissures, eye abnormalities, and highly arched palate. It was characterized in 1971; eight cases had been identified as of 1995. To date, the number of cases is disputed, with sources claiming the number ranges from 14 to 31.
Symptoms and signs The signs and symptoms of Kaufman oculocerebrofacial syndrome are consistent with the following:
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. This gene is located at molecular location- base pairs 109,477,410 to 109,543,628 and position 24.11 on chromosome 12.
Genetics
The mechanism (or pathogenesis) of Kaufman oculocerebrofacial syndrome appears to begin due to a mutation in the E3 ubiquitin protein ligase. (UBE3B).
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. 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.
Diagnosis
The diagnosis of Kaufman oculocerebrofacial syndrome can be achieved via molecular testing approaches. Additionally to ascertain if the individual has the condition:
Growth assessment Thyroid function evaluation Kidney ultrasound Echocardiogram
Differential diagnosis Kaufman oculocerebrofacial syndrome differential diagnosis consists of:
Management Treatment for this condition entails surveillance of growth and contractures. Furthermore, the following are treatment options:
Thyroid hormone replacement Speech therapy Hearing aids
See also Ubiquitin
References
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.{{cite book}}: CS1 maint: multiple names: authors list (link)
External links PubMed