Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delay.

ABSTRACT:

Background

Heterozygous variants in Transient receptor potential melastatin type 7 (TRPM7), encoding an essential and ubiquitously expressed cation channel, may cause hypomagnesemia, but current evidence is insufficient to draw definite conclusions and it is unclear whether any other phenotypes can occur.

Methods

Individuals with unexplained hypomagnesemia underwent whole-exome sequencing which identified TRPM7 variants. Pathogenicity of the identified variants was assessed by combining phenotypic, functional and in silico analyses.

Results

We report three new heterozygous missense variants in TRPM7 (p.Met1000Thr, p.Gly1046Arg, p.Leu1081Arg) in individuals with hypomagnesemia. Strikingly, autism spectrum disorder and developmental de

SUBMITTER: Bosman W 

PROVIDER: S-EPMC11295107 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature