Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome.

This article discusses a case study of a female patient and her affected niece who have a homozygous frameshift variant of the CLPP gene, which is associated with severe Perrault syndrome. The proband has symptoms including hearing loss, primary ovarian insufficiency, abnormal brain white matter, and developmental delay. The study describes the genetic variant and its predicted effects, as well as the clinical features of the patients. The authors suggest that severe Perrault syndrome may result from biallelic null-alleles of CLPP, while hypomorphic variants may be associated with milder symptoms. The research was supported by various funding sources and the authors declare no conflicts of interest. [Extracted from the article]