Universität zu Köln

Weissbach, Susann, Reinert, Marie-Christine, Altmueller, Janine, Kraetzner, Ralph, Thiele, Holger, Rosenbaum, Thorsten, Nuernberg, Peter and Gaertner, Jutta (2017). A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy. Am. J. Med. Genet. A, 173 (10). S. 2803 - 2808. HOBOKEN: WILEY. ISSN 1552-4833

Full text not available from this repository.

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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Weissbach, Susann UNSPECIFIED UNSPECIFIED UNSPECIFIED Reinert, Marie-Christine UNSPECIFIED UNSPECIFIED UNSPECIFIED Altmueller, Janine UNSPECIFIED UNSPECIFIED UNSPECIFIED Kraetzner, Ralph UNSPECIFIED UNSPECIFIED UNSPECIFIED Thiele, Holger UNSPECIFIED UNSPECIFIED UNSPECIFIED Rosenbaum, Thorsten UNSPECIFIED UNSPECIFIED UNSPECIFIED Nuernberg, Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED Gaertner, Jutta UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-216348
DOI:	10.1002/ajmg.a.38390
Journal or Publication Title:	Am. J. Med. Genet. A
Volume:	173
Number:	10
Page Range:	S. 2803 - 2808
Date:	2017
Publisher:	WILEY
Place of Publication:	HOBOKEN
ISSN:	1552-4833
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language LINKED MENTAL-RETARDATION; UBIQUITIN LIGASE; SHORT STATURE; MUTATION; GENE; HYPOGONADISM; DELETION; DATABASE; ENCODES; GENOME Multiple languages Genetics & Heredity Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/21634