Petersen Michael B, Grigoriadou Maria, Koutroumpe Maria, Kokotas Haris
Department of Genetics, Institute of Child Health, Aghia Sophia Children's Hospital, Athens 11527, Greece.
Int J Pediatr Otorhinolaryngol. 2012 Jul;76(7):969-71. doi: 10.1016/j.ijporl.2012.03.007. Epub 2012 Apr 6.
Non-syndromic hearing loss is one of the most common hereditary determined diseases in human, and the disease is a genetically heterogeneous disorder. Mutations in the GJB2 gene, encoding connexin 26 (Cx26), are a major cause of non-syndromic recessive hearing impairment in many countries and are largely dependent on ethnic groups. Due to the high frequency of the c.35delG GJB2 mutation in the Greek population, we have previously suggested that Greek patients with sensorineural, non-syndromic deafness should be tested for the c.35delG mutation and the coding region of the GJB2 gene should be sequenced in c.35delG heterozygotes. Here we present on the clinical and molecular genetic evaluation of a family suffering from prelingual, sensorineural, non-syndromic deafness. A novel c.247_249delTTC (p.F83del) GJB2 mutation was detected in compound heterozygosity with the c.35delG GJB2 mutation in the proband and was later confirmed in the father, while the mother was homozygous for the c.35delG GJB2 mutation. We conclude that compound heterozygosity of the novel c.247_249delTTC (p.F83del) and the c.35delG mutations in the GJB2 gene was the cause of deafness in the proband and his father.
非综合征性听力损失是人类最常见的遗传性疾病之一，且该疾病是一种基因异质性疾病。编码连接蛋白26（Cx26）的GJB2基因突变是许多国家非综合征性隐性听力障碍的主要原因，并且在很大程度上取决于种族群体。由于希腊人群中c.35delG GJB2突变的频率较高，我们之前曾建议，患有感音神经性、非综合征性耳聋的希腊患者应检测c.35delG突变，并且应对c.35delG杂合子的GJB2基因编码区进行测序。在此，我们展示了一个患有语前、感音神经性、非综合征性耳聋家庭的临床和分子遗传学评估。在该先证者中检测到一种新的c.247_249delTTC（p.F83del）GJB2突变，与c.35delG GJB2突变呈复合杂合状态，随后在其父亲中得到证实，而其母亲为c.35delG GJB2突变的纯合子。我们得出结论，GJB2基因中新型c.247_249delTTC（p.F83del）与c.35delG突变的复合杂合状态是先证者及其父亲耳聋的原因。
