title: The WNT7A G204S mutation is associated with both Al-Awadi-Raas Rothschild syndrome and Fuhrmann syndrome phenotypes.
abstract: Two syndromes are known to be associated with WNT7A mutations: Al-Awadi-Raas-Rothschild syndrome (AARRS) and Fuhrmann syndrome. Woods et al. (2006) showed that there is complete and partial loss of WNT7A function in these two syndromes respectively. Therefore, both syndromes have similar clinical features but the phenotype in Fuhrmann syndrome is less severe. The G204S mutation was previously reported to result in AARRS phenotype in three Saudi families. In the current communication, we report on a different unrelated Saudi patient with the same mutation but the patient had Fuhrmann syndrome phenotype. We believe this case is important because it questions the presence of a phenotype-genotype correlation in WNT7A mutations and because it demonstrates that the G204S mutation may be associated with both AARRS and Fuhrmann phenotypes.
authors.affiliation: Department of Surgery, King Saud University, Riyadh, Saudi Arabia.
authors.forename: M M
authors.initials: MM
authors.lastname: Al-Qattan
authors.forename: H E
authors.initials: HE
authors.lastname: Shamseldin
authors.forename: F S
authors.initials: FS
authors.lastname: Alkuraya
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000568:Amenorrhea / Q000235:genetics*; D004480:Ectromelia / Q000235:genetics*; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics*; D056726:Genetic Association Studies; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D010384:Pelvic Bones / Q000002:abnormalities; D010641:Phenotype; D012529:Saudi Arabia; D014599:Uterus / Q000002:abnormalities; D051153:Wnt Proteins / Q000235:genetics* / Q000378:metabolism
chemical_list: C092778:WNT7A protein, human; D051153:Wnt Proteins