Lerer I, Sagi M, Malamud E, Levi H, Raas-Rothschild A, Abeliovich D
Department of Human Genetics, Hadassah Hebrew University Hospital and Medical School, Jerusalem, Israel.
Am J Med Genet. 2000 Nov 6;95(1):53-6. doi: 10.1002/1096-8628(20001106)95:1<53::aid-ajmg11>3.0.co;2-2.
Twenty-seven unrelated Jewish Ashkenazi patients with nonsyndromic prelingual deafness (NSD) were analyzed for mutations in the coding sequence of the connexin 26 (Cx26) gene. Biallelic mutations were identified in 19 of the 27 patients (70.4%); 12 were homozygous for the mutation 167delT, 2 were homozygous for the mutation 35delG, and 5 were compound 167delT/35delG heterozygotes. In addition three patients were heterozygous with no second identified mutation in the Cx26 gene. Biallelic mutations in the Cx26 gene account for 83% of familial cases and 44% of the sporadic cases. Among 268 unselected Ashkenazi individuals, 20 were 167delT/N heterozygotes, giving an estimate of 7.5% carrier frequency. Based on the 167delT carrier frequency in three studies (including the present one), it is expected that 167delT/167delT homozygotes account for 70% of all patients with NSD (1 in 1300). The hearing capacity of 30 patients (probands and their sibs) with biallelic Cx26 mutations and at least one allele with 167delT demonstrated inter- and intrafamilial variability from profound to mild hearing impairment.
对27名患有非综合征性语前聋（NSD）的非亲属犹太裔德系犹太人患者的连接蛋白26（Cx26）基因编码序列中的突变进行了分析。27名患者中有19名（70.4%）发现了双等位基因突变；12名是167delT突变的纯合子，2名是35delG突变的纯合子，5名是167delT/35delG复合杂合子。此外，3名患者是杂合子，在Cx26基因中未发现第二个突变。Cx26基因中的双等位基因突变占家族性病例的83%，散发性病例的44%。在268名未经选择的德系犹太人个体中，20名是167delT/N杂合子，估计携带频率为7.5%。基于三项研究（包括本研究）中的167delT携带频率，预计167delT/167delT纯合子占所有NSD患者的70%（1/1300）。30名患有双等位基因Cx26突变且至少有一个167delT等位基因的患者（先证者及其同胞）的听力能力表现出家族间和家族内从重度到轻度听力障碍的变异性。
