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Rapid screening of copy number variations in STRC by droplet digital PCR in patients with mild-to-moderate hearing loss.
Human Genome Variation ( IF 1.0 ) Pub Date : 2019-08-30 , DOI: 10.1038/s41439-019-0075-5 Taku Ito 1 , Yoshiyuki Kawashima 1 , Taro Fujikawa 1 , Keiji Honda 1 , Ayane Makabe 1 , Ken Kitamura 1, 2 , Takeshi Tsutsumi 1
Human Genome Variation ( IF 1.0 ) Pub Date : 2019-08-30 , DOI: 10.1038/s41439-019-0075-5 Taku Ito 1 , Yoshiyuki Kawashima 1 , Taro Fujikawa 1 , Keiji Honda 1 , Ayane Makabe 1 , Ken Kitamura 1, 2 , Takeshi Tsutsumi 1
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Copy number variations (CNVs) are commonly reported in STRC, the causal gene for DFNB16. Various techniques are used clinically for CNV detection, and droplet digital PCR (ddPCR) provides highly precise absolute quantification of DNA copy number. We aimed to validate the feasibility and efficiency of ddPCR in combination with long-range PCR (LR-PCR) in identifying CNVs and mutations in STRC. Additionally, we determined the frequency of CNVs and mutations in STRC in Japanese patients with mild-to-moderate hearing loss. We evaluated 84 unrelated Japanese patients with mild-to-moderate bilateral idiopathic or autosomal recessive nonsyndromic sensorineural hearing loss. The ratio of STRC copy number to the copy number of the internal control RPP30 ranged from 0.949 to 1.009 (0.989 ± 0.017) in 77 patients; it ranged from 0.484 to 0.538 (0.509 ± 0.024) in five patients and was 0.000 in two patients, indicating heterozygous and homozygous deletions, respectively. The copy number deletion prevalence rates were 7.7% and 0.9% in the patients and healthy controls, respectively. In combination with LR-PCR, ddPCR revealed that at least three patients (3.6%) had STRC-related hearing loss. Detecting STRC CNVs by ddPCR was rapid, precise, and cost-effective and facilitated the identification of STRC CNVs.
中文翻译：
轻度至中度听力损失患者中的液滴数字PCR快速筛查STRC的拷贝数变异。
拷贝数变异（CNV）通常在STRC（DFNB16的致病基因）中报道。临床上，CNV检测使用了各种技术，液滴数字PCR（ddPCR）提供了DNA拷贝数的高精度绝对定量。我们旨在验证ddPCR与长距离PCR（LR-PCR）结合用于鉴定CNV和STRC中突变的可行性和效率。此外，我们确定了轻度至中度听力损失的日本患者中CNV的频率和STRC中的突变。我们评估了84名不相关的日本患者，这些患者患有轻度至中度的双侧特发性或常染色体隐性非综合征性感觉神经性听力损失。77例患者中STRC拷贝数与内部对照RPP30拷贝数的比率为0.949至1.009（0.989±0.017）。它的范围从0.484到0.538（0.509±0。024）在5例患者中为0.000，在2例患者中为0.000，分别指示杂合和纯合缺失。患者和健康对照者的拷贝数缺失发生率分别为7.7％和0.9％。结合LR-PCR，ddPCR显示至少三名患者（3.6％）患有STRC相关的听力损失。通过ddPCR检测STRC CNV的方法快速，准确且具有成本效益，并促进了STRC CNV的鉴定。
更新日期：2019-08-30
中文翻译：
轻度至中度听力损失患者中的液滴数字PCR快速筛查STRC的拷贝数变异。
拷贝数变异（CNV）通常在STRC（DFNB16的致病基因）中报道。临床上，CNV检测使用了各种技术，液滴数字PCR（ddPCR）提供了DNA拷贝数的高精度绝对定量。我们旨在验证ddPCR与长距离PCR（LR-PCR）结合用于鉴定CNV和STRC中突变的可行性和效率。此外，我们确定了轻度至中度听力损失的日本患者中CNV的频率和STRC中的突变。我们评估了84名不相关的日本患者，这些患者患有轻度至中度的双侧特发性或常染色体隐性非综合征性感觉神经性听力损失。77例患者中STRC拷贝数与内部对照RPP30拷贝数的比率为0.949至1.009（0.989±0.017）。它的范围从0.484到0.538（0.509±0。024）在5例患者中为0.000，在2例患者中为0.000，分别指示杂合和纯合缺失。患者和健康对照者的拷贝数缺失发生率分别为7.7％和0.9％。结合LR-PCR，ddPCR显示至少三名患者（3.6％）患有STRC相关的听力损失。通过ddPCR检测STRC CNV的方法快速，准确且具有成本效益，并促进了STRC CNV的鉴定。
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