Universität zu Köln

Abdel-Salam, Ghada ORCID: 0000-0003-2893-8802, Thoenes, Michaela, Afifi, Hanan H., Koerber, Friederike, Swan, Daniel ORCID: 0000-0001-8978-8129 and Bolz, Hanno Joern (2014). The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration. Orphanet J. Rare Dis., 9. LONDON: BIOMED CENTRAL LTD. ISSN 1750-1172

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Abstract

Background: WWOX, encoding WW domain-containing oxidoreductase, spans FRA16D, the second most common chromosomal fragile site frequently altered in cancers. It is therefore considered a tumor suppressor gene, but its direct implication in cancerogenesis remains controversial. Methods and results: By whole-exome sequencing, we identified a homozygous WWOX nonsense mutation, p.Arg54*, in a girl from a consanguineous family with a severe syndrome of growth retardation, microcephaly, epileptic seizures, retinopathy and early death, a phenotype highly similar to the abormalities reported in lde/lde rats with a spontaneous functional null mutation of Wwox. As in rats, no tumors were observed in the patient or heterozygous mutation carriers. Conclusions: Our finding, a homozygous loss-of-function germline mutation in WWOX in a patient with a lethal autosomal recessive syndrome, supports an alternative role of WWOX and indicates its importance for human viability.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Abdel-Salam, Ghada UNSPECIFIED orcid.org/0000-0003-2893-8802 UNSPECIFIED Thoenes, Michaela UNSPECIFIED UNSPECIFIED UNSPECIFIED Afifi, Hanan H. UNSPECIFIED UNSPECIFIED UNSPECIFIED Koerber, Friederike UNSPECIFIED UNSPECIFIED UNSPECIFIED Swan, Daniel UNSPECIFIED orcid.org/0000-0001-8978-8129 UNSPECIFIED Bolz, Hanno Joern UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-448285
DOI:	10.1186/1750-1172-9-12
Journal or Publication Title:	Orphanet J. Rare Dis.
Volume:	9
Date:	2014
Publisher:	BIOMED CENTRAL LTD
Place of Publication:	LONDON
ISSN:	1750-1172
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language DOMAIN-CONTAINING OXIDOREDUCTASE; TRANSLOCATION; MITOCHONDRIAL; EXPRESSION; GENERATION; VARIANTS Multiple languages Genetics & Heredity; Medicine, Research & Experimental Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/44828