Targeted exome sequencing reveals a novel GLI3 mutation in a Chinese family with nonsyndromic polydactyly

Background Polydactyly is a phenotypically and genetically highly heterogeneous limb malformation with preaxial, postaxial, and central subtypes. The aim of this study was to identify genetically pathogenic factor in a Chinese nonsyndromic polydactyly family. Results Seven family members and 100 hea...

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Bibliographic Details
Published in:Developmental dynamics 2019-10, Vol.248 (10), p.942-947
Main Authors: Zhao, Xiangyu, Xu, Hongyan, Liu, Xiaxia, Li, Lin
Format: Article
Language:English
Subjects:
Developmental disabilities
Frameshift mutation
Genetic disorders
genotype
GLI3
Mutation
phenotype
Polydactyly
Predictive control
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Summary:Background Polydactyly is a phenotypically and genetically highly heterogeneous limb malformation with preaxial, postaxial, and central subtypes. The aim of this study was to identify genetically pathogenic factor in a Chinese nonsyndromic polydactyly family. Results Seven family members and 100 healthy controls were recruited, and the genetically pathogenic factor of the polydactyly family was investigated by targeted exome sequencing. Targeted exome sequencing revealed a novel frameshift mutation c.2148delA (p.Gln716Hisfs*17) of GLI3 in the family. This GLI3 variant was absent in 100 healthy controls and predicted to be highly damaging to the function of the GLI3 by causing half truncation of the protein. Conclusion This novel variant extended the mutational and phenotypic spectra of GLI3 and demonstrated the feasibility of targeted exome sequencing in clinical application of molecular diagnosis. Key Findings Polydactyly. GLI3. Frameshift mutation. Phenotype. Genotype.
ISSN:1058-8388
1097-0177
DOI:10.1002/dvdy.89