DOI 10.3760/cma.j.issn.1003-9406.2019.08.013

Медицинская библиотека · Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2019

[Analysis of TRPM6 gene variant in a pedigree affected with hypocalcemia secondary to hypomagnesemia].

Tan Jianqiang, Yan Tizhen, Li Zhetao, Huang Jun, Cai Ren

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Аннотация

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.

Для цитирования: Tan Jianqiang, Yan Tizhen, Li Zhetao, Huang Jun, Cai Ren. [Analysis of TRPM6 gene variant in a pedigree affected with hypocalcemia secondary to hypomagnesemia].. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2019. DOI: 10.3760/cma.j.issn.1003-9406.2019.08.013.

Предметные рубрики MeSH

Heterozygote Humans Hypocalcemia Magnesium Magnesium Deficiency Male Pedigree TRPM Cation Channels

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