A novel UBE2A mutation causes X-linked intellectual disability type Nascimento.

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.

SUBMITTER: Tsurusaki Y 

PROVIDER: S-EPMC5462939 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature