Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis.

Abstract excerpt

BACKGROUND: We clinically and genetically evaluated a Taiwanese boy presenting with developmental delay, organomegaly, hypogammaglobulinemia and hypopigmentation without osteopetrosis. Whole-exome sequencing revealed a de novo gain-of-function variant, p.Tyr715Cys, in the C-terminal domain of ClC-7 encoded by CLCN7. METHODS: Nicoli et al. (2019) assessed the functional impact of p.Tyr715Cys by heterologous...

Topics

• Humans
• Male
• Chloride Channels
• Gain of Function Mutation
• Osteopetrosis
• Phenotype
• Child, Preschool