Identification novel mutations and phenotypic spectrum expanding in PATL2 in infertile women with IVF/ICSI failure.

ABSTRACT:

Aim

Abnormalities in oocyte maturation, fertilization, and early embryonic development are major causes of primary infertility in women who are undergoing IVF/ICSI attempts. Although many genetic factors responsible for these abnormal phenotypes have been identified, there are more additional pathogenic genes and variants yet to be discovered. Previous studies confirmed that bi-allelic PATL2 deficiency is an important factor for female infertility. In this study, 935 infertile patients with IVF/ICSI failure were selected for whole-exome sequencing, and 18 probands carrying PATL2 variants with a recessive inheritance pattern were identified.

Methods

We estimated that the prevalence contributed by PATL2 was 1.93% (18/935) in our study cohort.

Results

15 novel variants w

SUBMITTER: Ye Z 

PROVIDER: S-EPMC11143103 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature