CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia.

ABSTRACT: Intellectual disability and seizures are frequently associated with hypomagnesemia and have an important genetic component. However, to find the genetic origin of intellectual disability and seizures often remains challenging because of considerable genetic heterogeneity and clinical variability. In this study, we have identified new mutations in CNNM2 in five families suffering from mental retardation, seizures, and hypomagnesemia. For the first time, a recessive mode of inheritance of CNNM2 mutations was observed. Importantly, patients with recessive CNNM2 mutations suffer from brain malformations and severe intellectual disability. Additionally, three patients with moderate mental disability were shown to carry de novo heterozygous missense mutations in the CNNM2 gene. To elucidate the

SUBMITTER: Arjona FJ 

PROVIDER: S-EPMC3974678 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature