Genetic analysis of a pedigree affected with Bartter's syndrome.
10.3760/cma.j.issn.1003-9406.2019.07.011
- VernacularTitle:一个巴特综合征家系的遗传学分析及产前诊断
- Author:
Ke YANG
1
;
Xiaodong HUO
;
Yuwei ZHANG
;
Mengting ZHANG
;
Yue GAO
;
Dong WU
;
Guiyu LOU
;
Na QI
;
Bing ZHANG
;
Dan WANG
Author Information
1. Henan Provincial Institute of Medical Genetics, Henan People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, Henan 450003, China. ychslshx@126.com.
- Publication Type:Journal Article
- MeSH:
Adaptor Proteins, Signal Transducing;
genetics;
Antigens, Neoplasm;
genetics;
Bartter Syndrome;
genetics;
Female;
Genetic Testing;
Heterozygote;
Humans;
Male;
Mutation;
Pedigree;
Sequence Deletion
- From:
Chinese Journal of Medical Genetics
2019;36(7):701-703
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a pedigree affected with Bartter's syndrome (BS).
METHODS:Panel-based next-generation sequencing (NGS) was carried out to detect mutation in BS-related genes SLC12A1, KCNJ1, BSND and CLCNKB. Sanger sequencing of MAGED2 gene and chromosomal microarray analysis (CMA) were also performed on the patient. Suspected mutation was validated in her family members.
RESULTS:No pathogenic mutation was detected by NGS, while a 0.152 Mb microdeletion at Xp11.21 (54 834 585-54 986 301) was found in the male fetus, which removed the entire coding region of the MAGED2 gene. His mother was a heterozygous carrier of the deletion. His father and sister did not carry the same deletion.
CONCLUSION:The loss of the MAGED2 gene may underlie the BS in this pedigree.
