Functional and pathogenic insights into CNNM4 variants in Jalili syndrome.

ABSTRACT: Jalili syndrome, an autosomal recessive disorder causing cone-rod dystrophy and amelogenesis imperfecta, is a rare genetic disorder impacting visual and dental development. Missense variants (c.1474G > T and c.1475G > A) previously identified in patients with Jalili syndrome have been linked to functional impairment of CNNM4, however, the biological consequences of these pathogenic variants remain largely unexplored. In this study, we investigated the functional implications of these CNNM4 missense variants, which correspond to p.(Gly492Cys) and p.(Gly492Asp) substitutions within the CBS domain of the CNNM4 protein. Our findings demonstrated that these variants exhibit significantly reduced protein stability and increased mRNA decay rates compared with wild type. Despite exhibiting normal

SUBMITTER: Rattanapornsompong K 

PROVIDER: S-EPMC11585565 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature