Mutation analysis of a pedigree affected with brachydactyly type E2 and obesity.
10.3760/cma.j.issn.1003-9406.2019.03.016
- Author:
Dongxia FU
1
;
Huizhen WANG
;
Yingxian ZHANG
;
Yongxing CHEN
;
Haiyan WEI
;
Qianqian TAN
;
Yong ZHOU
Author Information
1. Department of Endocrinology and Inborn Error of Metabolism, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450000, China. haiyanwei2009@163.com.
- Publication Type:Journal Article
- MeSH:
Brachydactyly;
complications;
DNA Mutational Analysis;
Humans;
Mutation;
Obesity;
complications;
Pedigree
- From:
Chinese Journal of Medical Genetics
2019;36(3):257-259
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To identify pathogenic mutation in a pedigree affected with brachydactyly and obesity.
METHODS:Peripheral blood sample was collected for extraction of genomic DNA. Exons capture combined with next generation sequencing (NGS) was carried out to identify potential mutation. Sanger sequencing was used to verify the results.
RESULTS:NGS has identified a novel heterozygous missense mutation (c.125A>C, p.Gln42Pro) in the exon 1 of PTHLH gene. The result was verified by Sanger sequencing. The mutations was derived from his mother. His uncle and sister have also carried the same heterozygous mutation.
CONCLUSION:A novel mutation of the PTHLH gene has been identified in a pedigree affected with brachydactyly type E2 and obesity.
