Article
The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.
Orphanet journal of rare diseases - 23 Jan 2014
Abdel-Salam Ghada, Thoenes Michaela, Afifi Hanan H, Körber Friederike, Swan Daniel, Bolz Hanno Jörn
Abstract excerpt
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...
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