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ID 115130
Title Alternative
Novel CUL4B mutation in Cabezas syndrome
Author
Okamoto, Nobuhiko Osaka Medical Center and Research Institute for Maternal and Child Health
Watanabe, Miki Tokushima University
Matsuda, Keiko Osaka Medical Center and Research Institute for Maternal and Child Health
Kohmoto, Tomohiro Tokushima University
Content Type
Journal Article
Description
Cabezas syndrome is a syndromic form of X-linked intellectual disability primarily characterized by a short stature, hypogonadism and abnormal gait, with other variable features resulting from mutations in the CUL4B gene. Here, we report a clinically undiagnosed 5-year-old male with severe intellectual disability. A genome-first approach using targeted exome sequencing identified a novel nonsense mutation [NM_003588.3:c.2698G>T, p.(Glu900*)] in the last coding exon of CUL4B, thus diagnosing this patient with Cabezas syndrome.
Journal Title
Human Genome Variation
ISSN
2054345X
Publisher
Springer Nature
Volume
4
Start Page
16045
Published Date
2017-01-19
Rights
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/
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language
eng
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departments
Medical Sciences