Genetic Mapping and Pedigree Analysis of Non-syndromic Congenital Deafness in Surabaya, Indonesia

A total of 138 unrelated patients with non-syndromic hearing loss were enrolled in this study, where 49 patients met the inclusion criteria. The subject’s average age was 16.16 years, the male subjects were more than female, the hearing degree was >100dB in both ears. The hybridization results obtained 6 genetic mutations, one subject with mtDNA 1555, one subject with GJB2-299, two subjects with SLC26A4-IVS(7)2, and 3 subjects with unknown mutations. In pedigree analysis, the same genetic mutation was found in two generations of subjects with mtDNA 1555 and GJB2-299 mutations, and mutations of more than one genetic type were found in two generations of subjects with the SLC26A4-IVS(7)2 mutation.

本研究共纳入138名非综合征性听力损失（non-syndromic hearing loss）无关患者，其中49名符合纳入标准。受试者平均年龄为16.16岁，男性受试者人数多于女性，双耳听力损失程度均大于100dB。杂交实验共检出6种基因突变类型：1名受试者携带mtDNA 1555突变，1名携带GJB2-299突变，2名携带SLC26A4-IVS(7)2突变，另有3名受试者携带未知突变。家系分析结果显示，携带mtDNA 1555与GJB2-299突变的受试者，其两代家系中均检测到相同的基因突变；而携带SLC26A4-IVS(7)2突变的受试者，其两代家系中检出了多种遗传类型的突变。