Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3.
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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DOI：
10.1186/1755-8166-6-19
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发表时间：
2013-05-06
影响因子：
1.3
通讯作者：
Babovic-Vuksanovic D
中科院分区：
文献类型：
--
作者：
Hoppman N;Aypar U;Brodersen P;Brown N;Wilson J;Babovic-Vuksanovic D
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性疾病。超过50%的语前耳聋是遗传性的，最常见的是常染色体隐性和非综合征性的，其中50%可归因于由GJB 2和GJB 6突变引起的DFNB 1疾病。感音神经性听力损失和男性不育（耳聋-不育综合征; DIS）是一种连续基因缺失综合征，由染色体15q15.3上CATSPER 2和STRC基因的纯合缺失引起。女性只有听力损失和生育能力。直到最近，这种综合征仅在3个近亲家庭和2个非近亲家庭中描述。我们最近发现了一个听力损失和大头畸形的病人，他被发现是这种缺失的纯合子。她的非血亲父母都是携带者。我们检查了通过阵列CGH测试的患者数据库，并确定仅超过1%的患者是这种缺失的杂合子。如果这个数字代表了一般人群，这意味着1%的携带者频率和DIS的患病率为1/40，000。我们认为，DIS是一个大大低估了耳聋的原因，并应考虑在儿童听力损失。同样，目前在美国进行的听力损失分子遗传学检测应该扩大到包括该区域的缺失/重复分析。
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. 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. 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.
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全基因组SNP基因分型鉴定立体纤维蛋白（Strc）基因是小儿双边感觉神经性听力障碍的主要因素。
影响因子：
2
作者：
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影响因子：
4
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通讯作者：
Szuhai, K.
影响因子：
9.8
作者：
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通讯作者：
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影响因子：
4
作者：
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通讯作者：
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影响因子：
5.2
作者：
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通讯作者：
Beckmann, JS