Article: [Clinical features and TRPM6 mutations of an infant with hypomagnesemia with secondary hypocalcemia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2019 Volume 36, Issue 8, Page(s) 834–836
Abstract: Objective: To explore the clinical features and mutations of the TRPM6 gene in an infant featuring ... hypomagnesemia and secondary hypocalcemia.: Methods: Clinical data of the patient was collected. Genomic DNA ... sequencing.: Results: A novel homozygous c.5538delA (p.Q1846Qfs*2) mutation in the TRPM6 gene was ...
| Abstract | Objective: To explore the clinical features and mutations of the TRPM6 gene in an infant featuring hypomagnesemia and secondary hypocalcemia. Methods: Clinical data of the patient was collected. Genomic DNA was extracted from peripheral blood samples from the patient and her parents. Targeted exome sequencing was carried out to screen the potential mutations. Suspected mutations were verified by Sanger sequencing. Results: A novel homozygous c.5538delA (p.Q1846Qfs*2) mutation in the TRPM6 gene was identified in the proband, for which both of her parents were heterozygous carriers. Conclusion: The homozygous frameshift mutation of TRPM6 gene (c.5538delA) probably underlies the disease in the proband. The finding has expanded the mutation spectrum of TRPM6 gene. |
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| MeSH term(s) | DNA Mutational Analysis ; Female ; Frameshift Mutation ; Humans ; Hypocalcemia/genetics ; Infant ; Magnesium Deficiency/congenital ; Magnesium Deficiency/genetics ; TRPM Cation Channels/genetics |
| Chemical Substances | TRPM Cation Channels ; TRPM6 protein, human |
| Language | Chinese |
| Publishing date | 2019-09-03 |
| Publishing country | China |
| Document type | Journal Article |
| ISSN | 1003-9406 |
| ISSN | 1003-9406 |
| DOI | 10.3760/cma.j.issn.1003-9406.2019.08.020 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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