Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights.

ABSTRACT:

Context

Premature ovarian insufficiency (POI) is a common form of female infertility that usually presents as an isolated condition but can be part of various genetic syndromes. Early diagnosis and treatment of POI can minimize comorbidity and improve health outcomes.

Objective

We aimed to determine the genetic cause of syndromic POI, intellectual disability, neutropenia, and cataracts.

Methods

We performed whole-exome sequencing (WES) followed by functional validation via RT-PCR, RNAseq, and quantitative proteomics, as well as clinical update of previously reported patients with variants in the caseinolytic peptidase B (CLPB) gene.

Results

We identified causative variants in CLPB, encoding a mitochondrial disaggregase. Variants in this gene are known to cause

SUBMITTER: Tucker EJ 

PROVIDER: S-EPMC9693831 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature