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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-06-08

AUTHORS

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

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. More... »

PAGES

17019

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/hgv.2017.19

DOI

http://dx.doi.org/10.1038/hgv.2017.19

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1085916300

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/28611923


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