Homozygous variants in SYCP2L cause premature ovarian insufficiency.

ABSTRACT:

Background

The genetic causes of the majority of cases of female infertility caused by premature ovarian insufficiency (POI) are unknown.

Objective

To identify the genetic causes of POI in 110 patients.

Methods

Whole-exome sequencing was performed on 110 patients with POI, and putative disease-causative variants were validated by Sanger sequencing. Bioinformatic and in vitro functional analyses were performed for functional characterisation of the identified candidate disease-causative variants.

Results

We identified two homozygous variants (NM_001040274: c.150_151del (p.Ser52Profs*7), c.999A>G (p.Ile333Met)) in SYCP2L in two patients, which had co-segregated with POI in these families. Bioinformatic analysis predicted that the two variants are deleterio

SUBMITTER: He WB 

PROVIDER: S-EPMC7907585 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature