A novel mutation in FK506 binding protein-like (FKBPL) causes male infertility.

ABSTRACT:

Aim

To perform a mutation analysis of FK506 binding protein-like (FKBPL) in patients with azoospermia.

Methods

DNA samples were isolated from the peripheral blood of 30 azoospermic male patients with normal 46 XY karyotype and 10 healthy controls. Multiplex polymerase chain reaction assays were used to evaluate Y microdeletions, and the patients without deletions were further analyzed. Sanger sequencing was used for mutation analysis.

Results

A heterozygous adenine to guanine substitution was observed at position c.28 (c.28A>G) (one patient), guanine to adenine substitution at c.90 (c.90G>A) (three patients), and a novel insertion mutation of TCTCATAAGTCT at c. 229_240dup (two patients), all in FKBPL exon 2. Furthermore, four different benign variants were observed in

SUBMITTER: Sengun DA 

PROVIDER: S-EPMC8275947 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature