Universität zu Köln

Willkomm, Lena, Heredia, Raul, Hoffmann, Katrin, Wang, Haicui, Voit, Thomas, Hoffman, Eric P. and Cirak, Sebahattin (2016). Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia. J. Hum. Genet., 61 (6). S. 571 - 574. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1435-232X

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Abstract

Hereditary spastic paraplegia (HSP) is an extremely heterogeneous disease caused by mutations of numerous genes leading to lower limb spasticity (pure forms) that can be accompanied by neurological symptoms (complex forms). Despite recent advances, many causal mutations in patients remain unknown. We identified a consanguineous family with the early-onset HSP. Whole-exome sequencing revealed homozygosity for a novel Atlastin GTPase 1 gene stop mutation in three affected siblings. Heterozygous parents and siblings were unaffected. This was unexpected as mutations in the Atlastin 1 gene are known to cause autosomal dominant HSP. But our study showed that Atlastin 1 mutations may cause autosomal recessively inherited paraplegia with an underlying loss-of-function mechanism. Hence, patients with recessive forms of HSP should also be tested for the Atlastin 1 gene.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Willkomm, Lena UNSPECIFIED UNSPECIFIED UNSPECIFIED Heredia, Raul UNSPECIFIED UNSPECIFIED UNSPECIFIED Hoffmann, Katrin UNSPECIFIED UNSPECIFIED UNSPECIFIED Wang, Haicui UNSPECIFIED UNSPECIFIED UNSPECIFIED Voit, Thomas UNSPECIFIED UNSPECIFIED UNSPECIFIED Hoffman, Eric P. UNSPECIFIED UNSPECIFIED UNSPECIFIED Cirak, Sebahattin UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-273266
DOI:	10.1038/jhg.2016.6
Journal or Publication Title:	J. Hum. Genet.
Volume:	61
Number:	6
Page Range:	S. 571 - 574
Date:	2016
Publisher:	NATURE PUBLISHING GROUP
Place of Publication:	NEW YORK
ISSN:	1435-232X
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language AUTOSOMAL-DOMINANT; SPG3A; INHERITANCE Multiple languages Genetics & Heredity Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/27326