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

Yoshinori Tsurusaki; Ikuko Ohashi; Yumi Enomoto; Takuya Naruto; Jun Mitsui; Noriko Aida; Kenji Kurosawa

doi:10.1038/hgv.2017.19

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

Hum Genome Var. 2017 Jun 8:4:17019. doi: 10.1038/hgv.2017.19. eCollection 2017.

Authors

Yoshinori Tsurusaki¹, Ikuko Ohashi², Yumi Enomoto¹, Takuya Naruto³, Jun Mitsui⁴, Noriko Aida⁵, Kenji Kurosawa²

Affiliations

¹ Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.
² Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
³ Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
⁴ Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
⁵ Department of Radiology, Kanagawa Children's Medical Center, Yokohama, Japan.

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.