The heterozygous mutation of c.346-1G>A in SOHLH1 gene is
irrelevant to nonobstructive azoospermia
Abstract
Nonobstructive azoospermia (NOA) is an important cause of male
infertility, and the genetic pathogenesis is still incompletely
understood. The previous study reported that heterozygous mutation of
c.346-1G>A in SOHLH1 gene was identified in two NOA
patients. However, in our research, this heterozygous mutation was
confirmed in a Chinese infertile patient who was suffered from
teratozoospermia, and intriguingly, a homozygous mutation of
c.346-1G>A in SOHLH1 gene was detected in another patient
with severe oligozoospermia. Additionally, we correlated the good
prognosis of intracytoplasmic sperm injection (ICSI) in the patient
carrying the heterozygous mutation of c.346-1G>A in SOHLH1
gene. Thus, we suggested that the heterozygous mutation of
c.346-1G>A in SOHLH1 may not be the direct genetic cause
for NOA, and this homozygous mutation might impair spermatogenesis and
further lead to the reduced sperm count and abnormal sperm morphology,
eventually causing male infertility.