A pediatric case of hypomagnesemia 1 (HOMG1) caused by novel compound heterozygous mutations in TRPM6

Hypomagnesemia 1 (HOMG1) is an extremely rare disease with autosomal recessive inheritance that is caused by mutations in the transient receptor potential melastatin 6 gene (TRPM6). Here, we describe a pediatric HOMG1 case with novel compound heterozygous mutations of TRPM6 (c.1483 C > T [p.Gln49...

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Autores principales: Goda, Takeshi, Komatsu, Hiroshi, Nozu, Kandai, Nakajima, Hisakazu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6403217/
https://www.ncbi.nlm.nih.gov/pubmed/30911400
http://dx.doi.org/10.1038/s41439-019-0043-0
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author Goda, Takeshi
Komatsu, Hiroshi
Nozu, Kandai
Nakajima, Hisakazu
author_facet Goda, Takeshi
Komatsu, Hiroshi
Nozu, Kandai
Nakajima, Hisakazu
author_sort Goda, Takeshi
collection PubMed
description Hypomagnesemia 1 (HOMG1) is an extremely rare disease with autosomal recessive inheritance that is caused by mutations in the transient receptor potential melastatin 6 gene (TRPM6). Here, we describe a pediatric HOMG1 case with novel compound heterozygous mutations of TRPM6 (c.1483 C > T [p.Gln495*] and c.2715del [p.Trp905*]) in a 2-month-old boy who developed refractory seizures due to hypomagnesemia with secondary hypocalcemia.
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spelling pubmed-64032172019-03-25 A pediatric case of hypomagnesemia 1 (HOMG1) caused by novel compound heterozygous mutations in TRPM6 Goda, Takeshi Komatsu, Hiroshi Nozu, Kandai Nakajima, Hisakazu Hum Genome Var Data Report Hypomagnesemia 1 (HOMG1) is an extremely rare disease with autosomal recessive inheritance that is caused by mutations in the transient receptor potential melastatin 6 gene (TRPM6). Here, we describe a pediatric HOMG1 case with novel compound heterozygous mutations of TRPM6 (c.1483 C > T [p.Gln495*] and c.2715del [p.Trp905*]) in a 2-month-old boy who developed refractory seizures due to hypomagnesemia with secondary hypocalcemia. Nature Publishing Group UK 2019-03-06 /pmc/articles/PMC6403217/ /pubmed/30911400 http://dx.doi.org/10.1038/s41439-019-0043-0 Text en © The Author(s) 2019 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Data Report
Goda, Takeshi
Komatsu, Hiroshi
Nozu, Kandai
Nakajima, Hisakazu
A pediatric case of hypomagnesemia 1 (HOMG1) caused by novel compound heterozygous mutations in TRPM6
title A pediatric case of hypomagnesemia 1 (HOMG1) caused by novel compound heterozygous mutations in TRPM6
title_full A pediatric case of hypomagnesemia 1 (HOMG1) caused by novel compound heterozygous mutations in TRPM6
title_fullStr A pediatric case of hypomagnesemia 1 (HOMG1) caused by novel compound heterozygous mutations in TRPM6
title_full_unstemmed A pediatric case of hypomagnesemia 1 (HOMG1) caused by novel compound heterozygous mutations in TRPM6
title_short A pediatric case of hypomagnesemia 1 (HOMG1) caused by novel compound heterozygous mutations in TRPM6
title_sort pediatric case of hypomagnesemia 1 (homg1) caused by novel compound heterozygous mutations in trpm6
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6403217/
https://www.ncbi.nlm.nih.gov/pubmed/30911400
http://dx.doi.org/10.1038/s41439-019-0043-0
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