Variants in <i>GLI3</i> Cause Greig Cephalopolysyndactyly Syndrome

Abstract

<b><i>Background:</i></b> Greig cephalopolysyndactyly syndrome (GCPS) is a disorder of autopod and craniofacial abnormalities. Autopod anomalies include preaxial and/or postaxial polydactyly together with or without syndactyly while craniofacial features include hypertelorism and macrocephaly. GCPS is inherited in an autosomal dominant manner and is caused by sequence variants in <i>GLI3</i>. <b><i>Methodology and Results:</i></b> In this study, we examined four unrelated families with GCPS segregating in an autosomal dominant manner. Sanger sequencing revealed three novel (p.Tyr146Leufs*19, p.Glu99Serfs*60, and p.Thr541Arg) and one previously reported non-sense variant (p.Arg792*) in <i>GLI3</i>. <b><i>Conclusion:</i></b> The study expands the spectrum of the variants in the <i>GLI3</i> gene linked to GCPS, and should also facilitate genetic counseling of GCPS patients in the Pakistani population.