Ontology highlight
ABSTRACT:
SUBMITTER: Petrakis I
PROVIDER: S-EPMC9266752 | biostudies-literature | 2022 Jun
REPOSITORIES: biostudies-literature
Petrakis Ioannis I Drosataki Eleni E Stavrakaki Ioanna I Dermitzaki Kleio K Lygerou Dimitra D Konidaki Myrto M Pleros Christos C Kroustalakis Nikolaos N Maragkou Sevasti S Androvitsanea Ariadni A Stylianou Ioannis I Zaganas Ioannis I Stylianou Kostas K
International journal of molecular sciences 20220630 13
Renal hypomagnesemia syndromes involving <i>CNNM2</i> protein pathogenic variants are associated with variable degrees of neurocognitive dysfunction and hypomagnesemia. Here, we report a family with a novel <i>CNNM2</i> p.Pro482Ala variant, presenting with overt hypomagnesemia and mild neurological involvement (autosomal dominant renal hypomagnesemia 6, HOMG6, MIM# 613882). Using a bioinformatics approach, we showed that the p.Pro482Ala amino acid substitution causes a 3D conformational change i ...[more]