Deafness-Infertility Syndrome

Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.

Epidemiology

It has been reported in fewer than 5 families.

Etiology

Male infertility is caused by abnormal spermatozoid morphology and motility. DIS is due to a contiguous gene deletion at chromosome 15q15.3 including 2 genes CATSPER2 and STRC, and is inherited in an autosomal recessive manner: affected males are homozygous for the deletion, parents are asymptomatic carriers and homozygous females are deaf but not infertile.