title: Novel GLI3 mutation in a Greek-Cypriot patient with Greig cephalopolysyndactyly syndrome.
abstract: Greig cephalopolysyndactyly syndrome (GCPS) is typically characterized by preaxial or mixed preaxial and postaxial polydactyly with or without syndactyly and craniofacial features including hypertelorism and macrocephaly. Although GLI3 shows considerable pleiotropy, it is the only gene known to cause this particular phenotype. We report on a patient with GCPS caused by a novel GLI3 mutation. In addition, the patient had asymmetry of the calf muscles, most likely secondary to chronic hypertrophic radiculopathy. The GLI3 mutation identified by targeted Sanger sequencing analysis in our patient is predicted to lead to premature termination of translation. This is the first report of a Cypriot patient with a GCPS because of a novel GLI3 mutation. The report provides additional evidence in support of the rich variability in phenotypic expression, the mutational heterogeneity and ethnic diversity associated with this rare condition.
authors.affiliation: aDepartment of Clinical Genetics, The Cyprus Institute of Neurology and Genetics & Archbishop Makarios III Medical Centre bNeurology Clinics, The Cyprus Institute of Neurology & Genetics cDepartment of Ophthalmology, Nicosia General Hospital, Nicosia, Cyprus.
authors.forename: George A
authors.initials: GA
authors.lastname: Tanteles
authors.forename: Sofia
authors.initials: S
authors.lastname: Michaelidou
authors.forename: Eleni
authors.initials: E
authors.lastname: Loukianou
authors.forename: Violetta
authors.initials: V
authors.lastname: Christophidou-Anastasiadou
authors.forename: Kleopas A
authors.initials: KA
authors.lastname: Kleopa
mesh_terms: D000168:Acrocephalosyndactylia / Q000235:genetics*; D000328:Adult; D005385:Fingers / Q000002:abnormalities; D056726:Genetic Association Studies; D006801:Humans; D051741:Kruppel-Like Transcription Factors / Q000235:genetics*; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D017689:Polydactyly / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D011843:Radiculopathy; D013576:Syndactyly / Q000235:genetics; D014034:Toes / Q000002:abnormalities; 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