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首页> 外文期刊>Case Reports in Genetics >Two Portuguese Cochlear Implanted Dizygotic Twins: A Case Report
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Two Portuguese Cochlear Implanted Dizygotic Twins: A Case Report

机译：两个葡萄牙人工耳蜗植入同卵双胞胎：病例报告。

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摘要

Individual’s hearing performance after cochlear implant (CI) is variable and depends on different factors such as etiology of deafness, age at implantation, and social/family hearing environment. Here we report the case of dizygotic twins, boy and girl, presenting with neurosensorial profound deafness prior CI (age of implantation = 3.5 years old). Both parents have severe/profound deafness, since childhood, and use sign language as primary mode of communication. Clinical and genetic characterization was performed, as well as the assessment of the auditory and oral (re)habilitation after CI, applying a battery of audiological, speech, and language tests. The twin girl and the father were homozygous for the c.35delG mutation in the GJB2 gene, while the twin boy and the mother were compound heterozygotes, both monoallelic for c.35delG and for the deletion del(GJB6-D13S1830) in theGJB6gene. The remaining hearing impaired relatives were c.35delG homozygotes. The genetic cause of deafness was thus identified in this family. Some noteworthy differences were observed regarding twins’ auditory and oral performance after CI. Subsequent follow-up of these children allowed us to conclude that those differences were most likely due to the different environment in which the twins have been living than to their differentGJB2/GJB6genotypes.
机译：人工耳蜗植入（CI）后个体的听力表现是可变的，并且取决于不同的因素，例如耳聋的病因，植入时的年龄以及社交/家庭听力环境。在这里，我们报道了同卵双胞胎，男孩和女孩，在CI前（植入年龄= 3.5岁）伴有神经感觉性严重耳聋的病例。自童年以来，父母双方均患有严重/深度耳聋，并以手语为主要交流方式。进行了临床和遗传学表征，并对CI后的听觉和口腔（复健）能力进行了评估，并应用了一系列的听觉，言语和语言测试。双胞胎女孩和父亲是GJB2基因c.35delG突变的纯合子，而双胞胎男孩和母亲是复合杂合子，都是c.35delG和GJB6基因缺失del（GJB6-D13S1830）的单等位基因。其余听力受损的亲属为c.35delG纯合子。因此，在这个家庭中确定了耳聋的遗传原因。 CI后，双胞胎的听觉和口头表现存在一些值得注意的差异。对这些孩子的后续随访使我们得出结论，这些差异最可能是由于双胞胎所处的环境不同，而不是由于他们的GJB2 / GJB6基因型不同。

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