Wang et al. (2004) reported a 7-generation Chinese family in which multiple male members had nonsyndromic hearing impairment. The family originated from Jiangxi Province in southeastern China. Age at onset ranged from 7 to 27 years, resulting in ... Wang et al. (2004) reported a 7-generation Chinese family in which multiple male members had nonsyndromic hearing impairment. The family originated from Jiangxi Province in southeastern China. Age at onset ranged from 7 to 27 years, resulting in moderate to severe hearing impairment. Three patients had tinnitus. Wang et al. (2008) provided follow-up of the family reported by Wang et al. (2004). Twenty-three patrilineal males spanning 9 generations were affected. There was 1 female with hearing loss attributable to gentamicin. In the affected lineage, 23 (92%) of 25 living patrilineal males were diagnosed or reported with hearing loss, and 2 children remained to be diagnosed. Based on audiologic examination of 21 male family members, the degree of hearing loss was mild in 3 patients, moderate in 7, and severe in 11. Audiometry revealed 10 (48%) males with sloping readings in high frequencies, 8 (38%) with flat readings in all frequencies, and 3 (14%) with the U-shaped readings. The age of onset ranged from 5 to 27 years, with an average of 11.5 years. Family history revealed that the family had been living in the same village of Jiangxi Province for over 200 years. The first hearing-impaired member was believed to have been born in 1847 and died in 1898.
Wang et al. (2013) restudied the Chinese pedigree previously studied by Wang et al. (2008) and originally reported by Wang et al. (2004), analyzing in detail the Y chromosome of affected individuals and comparing it to that of ... Wang et al. (2013) restudied the Chinese pedigree previously studied by Wang et al. (2008) and originally reported by Wang et al. (2004), analyzing in detail the Y chromosome of affected individuals and comparing it to that of an unaffected branch of the family. The DFNY1 chromosome was found to carry a complex rearrangement, including duplication of several noncontiguous segments of the Y chromosome and insertion of approximately 160 kb of DNA from chromosome 1, in the pericentric region of Yp. This segment of chromosome 1, encompassing 5 genes as well as the 5-prime end of a sixth gene, is derived almost entirely from within a known hearing impairment locus, DFNA49 (608372). Wang et al. (2013) suggested that a third copy of 1 or more genes from the shared segment of chromosome 1 might be responsible for the hearing loss phenotype.