Abnormalities of the sperm due to CATSPER mutations can result in male infertility.
Syndromes with abnormal CATSPER:
(1) nonsyndromic male infertility (NSMI): CATSPER1 at 11q13.1
(2) deafness-infertility syndrome (DIS): CATSPER2 and STRC at 15q15
Inheritance: autosomal recessive
Impact of mutation: asthenospermia (loss or reduction of spermatozoa motility)
Clinical features:
(1) male infertlity
(2) semen analysis shows reduced sperm motility and/or abnormal morphology and/or oligospermia
(3) patients with DIS have early-onset sensorineural hearing loss
These syndromes require genetic testing for diagnosis.
