Tanteles George A, Michaelidou Sofia, Loukianou Eleni, Christophidou-Anastasiadou Violetta, Kleopa Kleopas A
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.
Clin Dysmorphol. 2015 Jul;24(3):102-5. doi: 10.1097/MCD.0000000000000074.
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.
Greig头多指（趾）综合征（GCPS）的典型特征是轴前或轴前与轴后混合性多指（趾）畸形，伴或不伴有并指（趾）畸形，以及包括眼距过宽和巨头畸形在内的颅面特征。尽管GLI3表现出相当大的多效性，但它是已知导致这种特定表型的唯一基因。我们报告了一名由新型GLI3突变引起的GCPS患者。此外，该患者小腿肌肉不对称，很可能继发于慢性肥厚性神经根病。通过靶向桑格测序分析在我们的患者中鉴定出的GLI3突变预计会导致翻译提前终止。这是关于一名因新型GLI3突变而患GCPS的塞浦路斯患者的首次报告。该报告提供了额外的证据，支持了与这种罕见疾病相关的表型表达丰富变异性、突变异质性和种族多样性。
