Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y ^POS mouse model.

ABSTRACT:

Background

Disorders of sex development (DSD) have an estimated frequency of 0.5% of live births encompassing a variety of urogenital anomalies ranging from mild hypospadias to a discrepancy between sex chromosomes and external genitalia. In order to identify the underlying genetic etiology, we had performed exome sequencing in a subset of DSD cases with 46,XY karyotype and were able to identify the causative genetic variant in 35% of cases. While the genetic etiology was not ascertained in more than half of the cases, a large number of variants of unknown clinical significance (VUS) were identified in those exomes.

Methods

To investigate the relevance of these VUS in regards to the patient's phenotype, we utilized a mouse model in which the presence of a Y chromosome from t

SUBMITTER: Barseghyan H 

PROVIDER: S-EPMC5789682 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature