Identification and functional characteristics of CHD1L gene variants implicated in human Mullerian duct anomalies.

ABSTRACT:

Background

Müllerian duct anomalies (MDAs) are congenital developmental disorders that present as a series of abnormalities within the reproductive tracts of females. Genetic factors are linked to MDAs and recent advancements in whole-exome sequencing (WES) provide innovative perspectives in this field. However, relevant mechanism has only been investigated in a restricted manner without clear elucidation of respective observations.

Methods

Our previous study reported that 2 of 12 patients with MDAs harbored the CHD1L variant c.348-1G>C. Subsequently, an additional 85 MDAs patients were recruited. Variants in CHD1L were screened through the in-house database of WES performed in the cohort and two cases were identified. One presented with partial septate uterus with left rena

SUBMITTER: Chen S 

PROVIDER: S-EPMC11437902 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature