Ross Shannon A, Novak Zdenek, Kumbla Rekha A, Zhang Kui, Fowler Karen B, Boppana Suresh
Department of Pediatrics, The University of Alabama at Birmingham, Birmingham, Alabama 35233, USA.
Pediatr Res. 2007 Jun;61(6):687-91. doi: 10.1203/pdr.0b013e3180536609.
Congenital cytomegalovirus (CMV) infection is a leading cause of sensorineural hearing loss (SNHL) in children. Whether connexin mutations are factors in the development of CMV-related hearing loss has not been explored. We examined gap junction protein beta-2 (GJB2) and gap junction protein beta-6 (GJB6) mutations in 149 children with congenital CMV infection and 380 uninfected neonates. Mutations in GJB2 and GJB6 were assessed by nucleotide sequencing and polymerase chain reaction (PCR) methods, respectively. The study population was predominantly African American, and 4.3% of the subjects were carriers of a connexin 26 mutation. The overall frequency of GJB2 mutations was significantly higher in the group of children with CMV infection and hearing loss (21%) compared with those with CMV infection and normal hearing (3%, p = 0.017) and the group of uninfected newborns (3.9%, p = 0.016). Eight previously reported mutations (M34T, V27I, R127H, F83L, R143W, V37I, V84L, G160S), and four novel mutations (V167M, G4D, A40T, and R160Q) were detected. None of the study children had the 342-kb deletion (delGJB6-D13S1830) in GJB6, which suggests that this mutation does not play a role in hereditary deafness in the African American population. Although GJB2 mutations were detected in children with and without CMV-related hearing loss, those with hearing loss had a higher frequency of GJB2 mutations.
先天性巨细胞病毒（CMV）感染是儿童感音神经性听力损失（SNHL）的主要原因。连接蛋白突变是否为CMV相关听力损失发展过程中的因素尚未得到探究。我们检测了149例先天性CMV感染儿童和380例未感染新生儿的间隙连接蛋白β-2（GJB2）和间隙连接蛋白β-6（GJB6）突变。分别采用核苷酸测序和聚合酶链反应（PCR）方法评估GJB2和GJB6的突变情况。研究人群主要为非裔美国人，4.3%的受试者为连接蛋白26突变携带者。与CMV感染且听力正常的儿童组（3%，p = 0.017）以及未感染新生儿组（3.9%，p = 0.016）相比，CMV感染且有听力损失的儿童组中GJB2突变的总体频率显著更高（21%）。检测到8种先前报道的突变（M34T、V27I、R127H、F83L、R143W、V37I、V84L、G160S）以及4种新突变（V167M、G4D、A40T和R160Q）。研究中的儿童均未出现GJB6中的342-kb缺失（delGJB6-D13S1830），这表明该突变在非裔美国人遗传性耳聋中不起作用。尽管在有和没有CMV相关听力损失的儿童中均检测到GJB2突变，但有听力损失的儿童中GJB2突变的频率更高。
