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Novel GLI3 mutation in a Greek-Cypriot patient with Greig cephalopolysyndactyly syndrome.
Clin Dysmorphol. 2015 Jul; 24(3):102-5.CD

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+Show Affiliations

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.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

25714367

Citation

Tanteles, George A., et al. "Novel GLI3 Mutation in a Greek-Cypriot Patient With Greig Cephalopolysyndactyly Syndrome." Clinical Dysmorphology, vol. 24, no. 3, 2015, pp. 102-5.
Tanteles GA, Michaelidou S, Loukianou E, et al. Novel GLI3 mutation in a Greek-Cypriot patient with Greig cephalopolysyndactyly syndrome. Clin Dysmorphol. 2015;24(3):102-5.
Tanteles, G. A., Michaelidou, S., Loukianou, E., Christophidou-Anastasiadou, V., & Kleopa, K. A. (2015). Novel GLI3 mutation in a Greek-Cypriot patient with Greig cephalopolysyndactyly syndrome. Clinical Dysmorphology, 24(3), 102-5. https://doi.org/10.1097/MCD.0000000000000074
Tanteles GA, et al. Novel GLI3 Mutation in a Greek-Cypriot Patient With Greig Cephalopolysyndactyly Syndrome. Clin Dysmorphol. 2015;24(3):102-5. PubMed PMID: 25714367.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Novel GLI3 mutation in a Greek-Cypriot patient with Greig cephalopolysyndactyly syndrome. AU - Tanteles,George A, AU - Michaelidou,Sofia, AU - Loukianou,Eleni, AU - Christophidou-Anastasiadou,Violetta, AU - Kleopa,Kleopas A, PY - 2015/2/26/entrez PY - 2015/2/26/pubmed PY - 2016/4/20/medline SP - 102 EP - 5 JF - Clinical dysmorphology JO - Clin Dysmorphol VL - 24 IS - 3 N2 - 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. SN - 1473-5717 UR - https://www.unboundmedicine.com/medline/citation/25714367/Novel_GLI3_mutation_in_a_Greek_Cypriot_patient_with_Greig_cephalopolysyndactyly_syndrome_ L2 - https://doi.org/10.1097/MCD.0000000000000074 DB - PRIME DP - Unbound Medicine ER -