Heterozygous FMN2 missense variant found in a family case of premature ovarian insufficiency.

ABSTRACT:

Background

Premature ovarian insufficiency (POI) plagues 1% of women under 40, while quite a few remain an unknown cause. The development of sequencing has helped find pathogenic genes and reveal the relationship between DNA repair and ovarian reserve. Through the exome sequencing, our study targets screening out the possible POI pathogenic gene and variants in a Chinese family and 20 sporadic POI patients, preliminarily exploring the functional impact and finding out potential linkages between the gene and POI.

Results

The whole exome sequencing suggested a novel FMN2 heterozygous variant c.1949C > T (p.Ser650Leu) carried by all three patients in a Chinese family and another c.1967G > A(p.Arg656His) variant in a sporadic case. Since no FMN2 missense mutation is reported for

SUBMITTER: Li J 

PROVIDER: S-EPMC8886936 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature