Potential Link Between a Disruptive <i>CAPN6</i> Variant and Neurodevelopmental Disorders.

ABSTRACT: The placenta is often described as the "window to the brain" due to its crucial role in fetal neurological development. In this study, we investigated a family where the older male offspring exhibited severe neurodevelopmental and mild motor coordination disorders. His brother displayed emotional and behavioral dysregulation along with mild motor coordination disorders. The father was asymptomatic, while the mother and daughter showed mild learning disabilities. Whole exome sequencing (WES) identified a disruptive X-linked pathogenic variant, c.1088_1089del p.Asp363GlyfsTer2, within the calpain-6 (CAPN6) gene. We have submitted this variant to the ClinVar database (RCV005234146.2). The variant was found in hemizygous condition in the affected male offspring and in heterozygous condi

SUBMITTER: Cali F 

PROVIDER: S-EPMC12897768 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature