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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.

The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration