SNP Shot: Genomic Insights

Sensorineural deafness and male infertility is a disorder where individuals experience hearing impairment alongside the inability to conceive children. Those affected usually have moderate to severe sensorineural hearing loss, resulting from problems within the inner ear. This hearing loss is generally identified in early childhood and remains stable throughout life. Males with this condition produce sperm with reduced motility, leading to infertility.

Inheritance:

This condition follows an autosomal recessive inheritance pattern. This means that an individual must inherit two copies of a mutated gene on chromosome 15 to exhibit the disorder. Each parent of an affected individual carries one copy of the mutated gene on chromosome 15, but typically does not display any symptoms themselves. Males inheriting two copies of the mutated gene on chromosome 15 will experience both sensorineural deafness and infertility. Females with two copies of the mutated gene on chromosome 15 will only experience sensorineural deafness. This is because the gene mutation (CATSPER2) specifically affects sperm function, which is not relevant to females.