title: The unclassified variant: c.2044AD>G, p.T682A (het.) in exon 12 of the GLI3 gene in a patient with oral-facial-digital syndrome type II (Mohr syndrome) phenotype.
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.
authors.affiliation: Department of Surgery, King Saud University, Riyadh, Saudi Arabia.
authors.forename: Mohammad M
authors.initials: MM
authors.lastname: Al-Qattan
authors.forename: Mohammed A
authors.initials: MA
authors.lastname: Al Balwi
mesh_terms: D000595:Amino Acid Sequence; D017124:Conserved Sequence; D005091:Exons; D005260:Female; D023061:Gene Order; D006579:Heterozygote; D006801:Humans; D007223:Infant; D051741:Kruppel-Like Transcription Factors / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009958:Orofaciodigital Syndromes / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D016415:Sequence Alignment; D000074290:Zinc Finger Protein Gli3
chemical_list: C065683:GLI3 protein, human; D051741:Kruppel-Like Transcription Factors; D009419:Nerve Tissue Proteins; D000074290:Zinc Finger Protein Gli3
keywords: GLI3; Mohr syndrome; OFDS; Oral-Facial-digital-syndromes; Oral-facial-digital syndrome