Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia.

Area of Science:

• Genetics
• Reproductive Biology
• Molecular Biology

Background:

• Familial non-obstructive azoospermia (NOA) can have a genetic basis.
• Autosomal-recessive forms of NOA are less understood than other genetic causes of male infertility.

Observation:

• A consanguineous Iranian Jewish family presented with two affected siblings with non-obstructive azoospermia.
• Homozygosity mapping and exome sequencing were employed to identify the genetic cause.

Findings:

• A novel splice site mutation in the SYCE1 gene was identified in the affected siblings.
• This mutation leads to a premature stop codon and undetectable SYCE1 protein levels.
• Testicular histology showed maturation arrest at the spermatocyte stage.

Implications:

• This study identifies SYCE1 as a crucial gene for human spermatogenesis.
• It highlights the importance of synaptonemal complex proteins in male fertility.
• The findings contribute to understanding the genetic basis of autosomal-recessive non-obstructive azoospermia.