Novel mutation in USP26 associated with azoospermia in a Sertoli cell-only syndrome patient.

ABSTRACT:

Background

Ubiquitin-Specific Peptidase 26 (USP26), located on the X chromosome, encodes a deubiquitinating enzyme expressed mainly in testis, where it regulates protein turnover during spermatogenesis and modulates the ubiquitination levels of the Androgen Receptor (AR), and as a consequence, affects AR signaling.

Methods

The patient was thoroughly characterized clinically. He was genetically tested by chromosome analysis and whole exome sequencing (WES).

Results

The patient was diagnosed with Sertoli cell-only syndrome pattern (SCOS). The WES analysis revealed only the variation in USP26: causing p.P469S in a highly evolutionary conserved amino acid as the possible cause for SCOS. The literature search identified 34 single variations and 14 clusters of variations in

SUBMITTER: Arafat M 

PROVIDER: S-EPMC7336752 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature