Two novel variants in CNNM2 disrupts magnesium efflux leading to neurodevelopmental disorders

Two novel variants in CNNM2 disrupts magnesium efflux leading to neurodevelopmental disorders

BackgroundHypomagnesemia, seizures, and impaired intellectual development 1 (HOMGSMR1) is a rare neurodevelopmental disorder associated with magnesium homeostasis disruption, caused by mutations in the CNNM2 gene. HOMGSMR1 demonstrates considerable clinical heterogeneity, but the genotype-phenotype...

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Bibliographic Details
Main Authors: Huijuan Li, Jing Liu, Yingdi Liu, Yaning Liu, Kehui Lu, Juan Wen, Huimin Zhu, Desheng Liang, Zhuo Li, Lingqian Wu
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-06-01
Series:Frontiers in Genetics
Subjects:
hypomagnesemia
seizures
intellectual disability
whole exome sequencing
CNNM2
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1600877/full
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