Analysis of TRPM6 gene variant in a pedigree affected with hypocalcemia secondary to hypomagnesemia.
10.3760/cma.j.issn.1003-9406.2019.08.013
- Author:
Jianqiang TAN
1
;
Tizhen YAN
;
Zhetao LI
;
Jun HUANG
;
Ren CAI
Author Information
1. Department of Medical Genetics, Liuzhou Maternal and Child Health Care Hospital, Liuzhou, Guangxi 545001, China. lzcairen@126.com.
- Publication Type:Journal Article
- MeSH:
Heterozygote;
Humans;
Hypocalcemia;
genetics;
Magnesium;
Magnesium Deficiency;
genetics;
Male;
Pedigree;
TRPM Cation Channels;
genetics
- From:
Chinese Journal of Medical Genetics
2019;36(8):805-808
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the molecular pathogenesis for a pedigree affected with hypocalcemia secondary to hypomagnesemia.
METHODS:Sanger sequencing was used to detect potential variant of the TRPM6 gene in the patient and their parents.
RESULTS:The results showed that the patient has carried novel homozygous c.3311C>T (p.Pro1104Leu) variant of the TRMP6 gene, for which both of his parents were heterozygous carriers. Analysis of protein functions using software predicted high risk of pathogenicity.
CONCLUSION:The homozygous c.3311C>T (p.Pro1104Leu) variant of the TRPM6 gene probably underlies the disease in this patient.
