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Article

Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.

American journal of medical genetics. Part A - 1 Mar 2015

Pedurupillay Christeen Ramane J, Barøy Tuva, Holmgren Asbjørn, Blomhoff Anne, Vigeland Magnus D, Sheng Ying, Frengen Eirik, Strømme Petter, Misceo Doriana

Abstract excerpt

A pair of sisters was ascertained for multiple congenital defects, including marked craniofacial dysmorphisms with blepharophimosis, and severe psychomotor delay. Two novel compound heterozygous mutations in UBE3B were identified in both the sisters by exome sequencing. These mutations include c.1A>G, which predicts p.Met1?, and a c.1773delC variant, predicted to cause a frameshift at p.Phe591fs. UBE3B encodes a...

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PMID: 25691420
DOI: 10.1002/ajmg.a.36944

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