The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).

ABSTRACT: Hypomagnesemia, seizures, and intellectual disability (HSMR) syndrome is a rare disorder caused by mutations in the cyclin M2 (CNNM2) gene. Due to the limited number of cases, extensive phenotype analyses of these patients have not been performed, hindering early recognition of patients. In this study, we established the largest cohort of HSMR to date, aiming to improve recognition and diagnosis of this complex disorder. Eleven novel variants in CNNM2 were identified in nine single sporadic cases and in two families with suspected HSMR syndrome. ²⁵ Mg²⁺ uptake assays demonstrated loss-of-function in seven out of nine variants in CNNM2. Interestingly, the pathogenic mutations resulted in decreased plasma membrane expression. The phenotype of those affected by pathogeni

SUBMITTER: Franken GAC 

PROVIDER: S-EPMC8248058 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature