Ontology highlight
ABSTRACT:
SUBMITTER: Abdel-Salam G
PROVIDER: S-EPMC3918143 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Abdel-Salam Ghada G Thoenes Michaela M Afifi Hanan H HH Körber Friederike F Swan Daniel D Bolz Hanno Jörn HJ
Orphanet journal of rare diseases 20140123
<h4>Background</h4>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.<h4>Methods and results</h4>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, ep ...[more]