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One such example is the contiguous gene deletion of <jats:italic>CATSPER2<\/jats:italic> and <jats:italic>STRC<\/jats:italic> genes, previously associated with deafness\u2010infertility syndrome (DIS) in males. Fifteen males with both hearing loss and infertility from southern India after exclusion for the DIS contiguous gene deletion and the <jats:italic>FOXI1<\/jats:italic> gene mutations are subjected to exome sequencing. This resolves the genetic etiology in four probands for both the phenotypes; In the remaining 11 probands, two each conclusively accounted for deafness and male infertility etiologies. Genetic heterogeneity is well reflected in both phenotypes. Four recessive (<jats:italic>TRIOBP, SLC26A4, GJB2, COL4A3<\/jats:italic>) and one dominant (<jats:italic>SOX10<\/jats:italic>) for the deafness; six recessive genes (<jats:italic>LRGUK, DNAH9, ARMC4, DNAH2, RSPH6A<\/jats:italic>, and <jats:italic>ACE<\/jats:italic>) for male infertility can be conclusively ascribed. <jats:italic>LRGUK<\/jats:italic> and <jats:italic>RSPH6A<\/jats:italic> genes are implicated earlier only in mice models, while the <jats:italic>ARMC4<\/jats:italic> gene is implicated in chronic destructive airway diseases due to primary ciliary dyskinesia. This study would be the first to document the role of these genes in the male infertility phenotype in humans. The result suggests that deafness and infertility are independent events and do not segregate together among the probands.<\/jats:p>","DOI":"10.1002\/ggn2.202300206","type":"journal-article","created":{"date-parts":[[2024,5,8]],"date-time":"2024-05-08T04:33:20Z","timestamp":1715142800000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Unraveling the Genetic Basis of Combined Deafness and Male Infertility Phenotypes through High\u2010Throughput Sequencing in a Unique Cohort from South India"],"prefix":"10.1002","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7905-1887","authenticated-orcid":false,"given":"Jeffrey","family":"Justin Margret","sequence":"first","affiliation":[{"name":"Department of Genetics Dr. ALM Post Graduate Institute of Basic Medical Sciences University of Madras Taramani Campus  Chennai 600 113 India"},{"name":"Department of Pediatrics Louisiana State University Health Sciences Center  Shreveport LA 71103 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3194-2650","authenticated-orcid":false,"given":"Chandru","family":"Jayasankaran","sequence":"additional","affiliation":[{"name":"Department of Genetics Dr. ALM Post Graduate Institute of Basic Medical Sciences University of Madras Taramani Campus  Chennai 600 113 India"},{"name":"Department of Personalized Health Care Roche Products India Pvt., Ltd.  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