Whole exome sequencing identified a rare WT1 loss-of-function variant in a non-syndromic POI patient.

ABSTRACT:

Background

Premature ovarian insufficiency (POI) is a highly heterogeneous disease, and up to 25% of cases can be explained by genetic causes. The transcription factor WT1 has long been reported to play a crucial role in ovary function. Wt1-mutated female mice exhibited POI-like phenotypes.

Methods and results

In this study, whole exome sequencing (WES) was applied to find the cause of POI in Han Chinese women. A nonsense variant in the WT1 gene: NM_024426.6:c.1387C>T(p.R463*) was identified in a non-syndromic POI woman. The variant is a heterozygous de novo mutation that is very rare in the human population. The son of the patient inherited the mutation and developed Wilms' tumor and urethral malformation at the age of 7. According to the American College of Medical Genetic

SUBMITTER: Wang Y 

PROVIDER: S-EPMC8801142 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature