title: Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations.
abstract: Adams-Oliver syndrome (AOS; OMIM 100300) typically comprises a combination of congenital scalp defects and terminal transverse limb defects. Recently, mutations in ARHGAP31 and RBPJ have been found causing autosomal dominant forms of AOS. We describe a four-generation pedigree with isolated terminal limb defects and a truncating mutation in ARHGAP31. This finding underscores the relevance of sequencing ARHGAP31 in similar cases of isolated limb defects, irrespective of the presence of a complete AOS phenotype. We also highlight the variability of clinical features among mutation carriers, ranging from severe reduction defects to mild as well as clinically unaffected cases suggesting reduced penetrance.
authors.affiliation: Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium.
authors.forename: Mala
authors.initials: M
authors.lastname: Isrie
authors.forename: Wim
authors.initials: W
authors.lastname: Wuyts
authors.forename: Hilde
authors.initials: H
authors.lastname: Van Esch
authors.forename: Koenraad
authors.initials: K
authors.lastname: Devriendt
mesh_terms: D004476:Ectodermal Dysplasia / Q000235:genetics*; D005190:Family; D005260:Female; D020690:GTPase-Activating Proteins / Q000235:genetics*; D006801:Humans; D051819:Immunoglobulin J Recombination Signal Sequence-Binding Protein / Q000235:genetics; D017880:Limb Deformities, Congenital / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D010750:Phosphoproteins / Q000235:genetics*; D012535:Scalp / Q000002:abnormalities; D012536:Scalp Dermatoses / Q000151:congenital* / Q000235:genetics; D017422:Sequence Analysis, DNA
chemical_list: C514543:ARHGAP31 protein, human; D020690:GTPase-Activating Proteins; D051819:Immunoglobulin J Recombination Signal Sequence-Binding Protein; D010750:Phosphoproteins; C497570:RBPJ protein, human
keywords: ARHGAP31; Adams-Oliver; autosomal dominant; limb reduction; transverse terminal limb defect