Deafness-infertility syndrome (DIS) is an autosomal recessive contiguous gene deletion syndrome characterised by deafness and sperm dysmotility. This syndrome is caused by the deletion of contiguous genes at 15q15.3. The deleted region involves two genes, CATSPER2 and STRC, that are expressed in the sperm and inner ear, respectively.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2H Syndromic genetic deafness
H02435 Deafness-infertility syndrome
Avidan N, Tamary H, Dgany O, Cattan D, Pariente A, Thulliez M, Borot N, Moati L, Barthelme A, Shalmon L, Krasnov T, Ben-Asher E, Olender T, Khen M, Yaniv I, Zaizov R, Shalev H, Delaunay J, Fellous M, Lancet D, Beckmann JS
Title
CATSPER2, a human autosomal nonsyndromic male infertility gene.
