A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy

Item Type:	Article
Title:	A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy
Creators Name:	Weissbach, S. and Reinert, M.C. and Altmüller, J. and Krätzner, R. and Thiele, H. and Rosenbaum, T. and Nürnberg, P. and Gärtner, J.
Abstract:	Cabezas type of X-linked syndromic intellectual disability (MRXSC; MIM300354) is a rare X-linked recessive intellectual disability characterized primarily by intellectual disability, short stature, hypogonadism, and gait abnormalities. It is caused by a wide spectrum of hemizygous variants in CUL4B. In a 10-year-old boy with an exceptional leukoencephalopathy pattern, we identified a new missense variant p.Leu329Gln in CUL4B using "Mendeliome" sequencing. However, his phenotype does not include the severe characteristics currently known for MRXSC. We discuss the divergent phenotype and propose a potential connection between the different CUL4B variants and corresponding phenotypes in the context of the current literature as well as 3D homology modeling.
Keywords:	Cabezas Type, CUL4B, Cullin 4B, Gait Abnormalities, Leukoencephalopathy, White Matter Lesion
Source:	American Journal of Medical Genetics Part A
ISSN:	1552-4825
Publisher:	Wiley-Blackwell
Volume:	173
Number:	10
Page Range:	2803-2807
Date:	October 2017
Official Publication:	https://doi.org/10.1002/ajmg.a.38390
PubMed:	View item in PubMed

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