Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family.
Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family.
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与中国家庭常染色体隐性听力损失相关的两个新型复合杂合 PTPRQ 突变的鉴定
DOI：
10.1371/journal.pone.0124757
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发表时间：
2015
期刊：
影响因子：
3.7
通讯作者：
Dai P
中科院分区：
文献类型：
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作者：
Gao X;Su Y;Chen YL;Han MY;Yuan YY;Xu JC;Xin F;Zhang MG;Huang SS;Wang GJ;Kang DY;Guan LP;Zhang JG;Dai P
PTPRQ突变与人类耳聋有关，这是由于毛细胞中静纤毛的缺陷。采用全外显子组测序技术，对1572例常染色体复发性非综合征性耳聋（ARNSHL）家系的致病基因进行了鉴定。我们还使用了74例ARNSHL家族性患者和656例种族匹配的对照染色体的DNA进行扩展变异分析。我们发现了两个新的复合杂合错义突变，c。在PTPRQ基因中，3125 A>G p.D1042 G（母亲等位基因）和c.5981 A>G p.E1994 G（父亲等位基因）是1572家系中复发性遗传性感音神经性耳聋的病因。在1572个家系中，这两种变异与听力损失表型共分离，但在74个家系患者中不存在。C.杂合性3125 A>G在两个来自未受影响的中国个体（656条染色体）的样品中被鉴定。因此，该家系的听力损失是由PTPRQ中两个新的复合杂合突变引起的。
Mutations in PTPRQ are associated with deafness in humans due to defects of stereocilia in hair cells. Using whole exome sequencing, we identified responsible gene of family 1572 with autosomal recessively non-syndromic hearing loss (ARNSHL). We also used DNA from 74 familial patients with ARNSHL and 656 ethnically matched control chromosomes to perform extended variant analysis. We identified two novel compound heterozygous missense mutations, c. 3125 A>G p.D1042G (maternal allele) and c.5981 A>G p.E1994G (paternal allele), in the PTPRQ gene, as the cause of recessively inherited sensorineural hearing loss in family 1572. Both variants co-segregated with hearing loss phenotype in family 1572, but were absent in 74 familial patients. Heterozygosity for c. 3125 A>G was identified in two samples from unaffected Chinese individuals (656 chromosomes). Therefore, the hearing loss in this family was caused by two novel compound heterozygous mutations in PTPRQ.
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