Abstract
The gene mutation for oral-facial digital syndrome type II (Mohr syndrome) is unknown. We describe a Saudi female infant with Mohr syndrome. An unclassified variant: c.2044 A>G, p.T682A in exon 12 of the GLI3 gene in a heterozygous state was identified in the infant. Mutation Taster (http://www.mutationtaster.org) considers this variant as “disease causing”. However, when the unaffected parents were tested, the father was found to have the same variant, also in a heterozygous state. Hence, the pathogenic role of this variant seems unlikely; although apparent non-penetrance remains a possibility.
•A Saudi infant with features of Mohr syndrome is described.•A variant in exon 12 of the GLI3 gene was identified in the infant and parent.•The pathogenic role of this variant seems unlikely.•However, apparent non-penetrance remains a possibility.