Work

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

Year: 2019

Type: article

Abstract: 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.

Source: Developmental Dynamics

DOI: 10.1002/dvdy.89

Authors: Xiangyu Zhao, Hongyan Xu, Xiaxia Liu, Lin Li

Institution: Linyi People's Hospital

Language: English

Topic: Congenital limb and hand anomalies

Subfield: Developmental Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funder: Natural Science Foundation of Shandong Province