Novel GLI3 mutation in a Greek–Cypriot patient with Greig cephalopolysyndactyly syndrome. Issue 3 (July 2015)

• Record Type: Journal Article
• Authors: Tanteles, George A.; Michaelidou, Sofia; Loukianou, Eleni; Christophidou-Anastasiadou, Violetta; Kleopa, Kleopas A.
• Is Part Of: Clinical dysmorphology. Volume 24:Issue 3(2015:Jul.)
• Publication Date: 2015-07
• Subjects: Abnormalities, Human -- Periodicals; Genetic disorders -- Periodicals; Abnormalities -- periodicals; Abnormalities, Human; Periodicals; 616.042
• DOI: 10.1097/MCD.0000000000000074
• Languages: English
• ISSNs: 0962-8827

Abstract

<abstract> <title> <x xml:space="preserve">Abstract</x> </title> <sec> <p>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 <italic>GLI3</italic> 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 <italic>GLI3</italic> mutation. In addition, the patient had asymmetry of the calf muscles, most likely secondary to chronic hypertrophic radiculopathy. The <italic>GLI3</italic> 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 <italic>GLI3</italic> 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.</p> </sec> </abstract>