A novel UBE2A mutation causes X-linked intellectual disability type Nascimento
Open Access
- 8 June 2017
- journal article
- research article
- Published by Springer Nature in Human Genome Variation
- Vol. 4 (1) , hgv201719
Abstract
X-linked intellectual disability (ID) type Nascimento (MIM #300860), also known as ubiquitin-conjugating enzyme E2 A (UBE2A) deficiency syndrome, is a congenital malformation syndrome characterized by moderate to severe ID, speech impairment, dysmorphic facial features, genital anomalies and skin abnormalities. Here, we report a Japanese patient with severe ID and congenital cataract. We identified a novel hemizygous mutation (c.76G>A, p.Gly26Arg) in UBE2A by whole-exome sequencing.Keywords
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