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首页> 外文期刊>Molecular cytogenetics >Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3
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Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3

机译：在美国，听力丧失的基因检测应包括15q15.3的耳聋/不育位点的缺失/重复分析

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Background Hearing loss is the most common birth defect and the most prevalent sensorineural disorder in developed countries. More than 50% of prelingual deafness is genetic, most often autosomal recessive and nonsyndromic, of which 50% can be attributed to the disorder DFNB1, caused by mutations in GJB2 and GJB6. Sensorineural hearing loss and male infertility (Deafness-Infertility Syndrome; DIS) is a contiguous gene deletion syndrome resulting from homozygous deletion of the CATSPER2 and STRC genes on chromosome 15q15.3. Females with DIS have only hearing loss and are fertile. Until recently this syndrome has only been described in three consanguineous families and 2 nonconsanguineous families. Results We recently indentified a patient with hearing loss and macrocephaly who was found to be homozygous for this deletion. Her nonconsanguineous parents are both carriers. We examined our database of patients tested by array CGH and determined that just over 1% of our patients are heterozygous for this deletion. If this number is representative of the general population, this implies a 1% carrier frequency and prevalence of DIS of 1 in 40,000 individuals. Conclusion We propose that DIS is a greatly under-diagnosed cause of deafness and should be considered in children with hearing loss. Likewise, current molecular genetic testing panels for hearing loss in the United States should be expanded to include deletion/duplication analysis of this region.
机译：背景技术听力损失是发达国家最常见的出生缺陷和最普遍的感觉神经疾病。舌前性耳聋的50％以上是遗传性的，最常见的是常染色体隐性遗传和非综合征性疾病，其中50％可归因于GJB2和GJB6突变引起的DFNB1疾病。感觉神经性听力减退和男性不育症（耳聋-不育症; DIS）是一种连续基因缺失综合征，是由于染色体15q15.3上的CATSPER2和STRC基因纯合缺失所致。患有DIS的女性只有听力障碍并且可以生育。直到最近，仅在三个血缘家族和两个非血缘家族中描述了这种综合征。结果我们最近发现了一名听力下降和大头畸形的患者，该患者被发现是纯合子。她的非近亲父母都是携带者。我们检查了通过阵列CGH测试的患者数据库，并确定只有1％以上的患者是这种缺失的杂合子。如果该数字代表总人口，则意味着1％的载频和40,000个人中DIS的患病率为1。结论我们认为DIS是导致耳聋的一个被充分诊断的病因，应该在听力下降的儿童中考虑。同样，美国目前的听力损失分子遗传学检测小组应扩大到包括该区域的缺失/重复分析。

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