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
Full text not available from this repository.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 | ||||||||||||||||||||||||||||
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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 | ||||||||||||||||||||||||||||
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URI: | http://kups.ub.uni-koeln.de/id/eprint/44828 |
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