Universität zu Köln

Elsayed, Solaf M., Heller, Raoul, Thoenes, Michaela, Zaki, Maha S., Swan, Daniel ORCID: 0000-0001-8978-8129, Elsobky, Ezzat, Zuehlke, Christine, Ebermann, Inga, Nuernberg, Gudrun, Nuernberg, Peter and Bolz, Hanno J. (2014). Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations. Eur. J. Hum. Genet., 22 (2). S. 286 - 289. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

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Abstract

Although many genes have been identified for the autosomal recessive cerebellar ataxias (ARCAs), several patients are unlinked to the respective loci, suggesting further genetic heterogeneity. We combined homozygosity mapping and exome sequencing in a consanguineous Egyptian family with congenital ARCA, mental retardation and pyramidal signs. A homozygous 5-bp deletion in SPTBN2, the gene whose in-frame mutations cause autosomal dominant spinocerebellar ataxia type 5, was shown to segregate with ataxia in the family. Our findings are compatible with the concept of truncating SPTBN2 mutations acting recessively, which is supported by disease expression in homozygous, but not heterozygous, knockout mice, ataxia in Beagle dogs with a homozygous frameshift mutation and, very recently, a homozygous SPTBN2 nonsense mutation underlying infantile ataxia and psychomotor delay in a human family. As there was no evidence for mutations in 23 additional consanguineous families, SPTBN2-related ARCA is probably rare.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Elsayed, Solaf M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Heller, Raoul UNSPECIFIED UNSPECIFIED UNSPECIFIED Thoenes, Michaela UNSPECIFIED UNSPECIFIED UNSPECIFIED Zaki, Maha S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Swan, Daniel UNSPECIFIED orcid.org/0000-0001-8978-8129 UNSPECIFIED Elsobky, Ezzat UNSPECIFIED UNSPECIFIED UNSPECIFIED Zuehlke, Christine UNSPECIFIED UNSPECIFIED UNSPECIFIED Ebermann, Inga UNSPECIFIED UNSPECIFIED UNSPECIFIED Nuernberg, Gudrun UNSPECIFIED UNSPECIFIED UNSPECIFIED Nuernberg, Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED Bolz, Hanno J. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-447584
DOI:	10.1038/ejhg.2013.150
Journal or Publication Title:	Eur. J. Hum. Genet.
Volume:	22
Number:	2
Page Range:	S. 286 - 289
Date:	2014
Publisher:	NATURE PUBLISHING GROUP
Place of Publication:	LONDON
ISSN:	1476-5438
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language DEAFNESS; LEADS; MYO6 Multiple languages Biochemistry & Molecular Biology; Genetics & Heredity Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/44758