NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights.

ABSTRACT:

Purpose

Premature ovarian insufficiency (POI) affects approximately 1% of women before the age of 40. Genetic contribution is a significant component of POI. The NOBOX gene was considered one of the major genetic causes of POI. However, the pathogenicity and the penetrance of NOBOX variants remain unclear.

Methods

We studied the whole coding region of the NOBOX gene by next generation sequencing in a cohort of 810 patients with POI, and we compared the frequency of each identified NOBOX variant to the general population taking into account the ethnicity of each individual.

Results

Screening of the whole coding region of the NOBOX gene allowed us to identify 35 different variants, including 5 loss-of-function variants. In total, 171 patients with POI (25%) carried out

SUBMITTER: Jordan P 

PROVIDER: S-EPMC10789696 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature