PTPRQ基因新复合杂合突变在一个中国家系中的鉴定
PTPRQ基因新复合杂合突变在一个中国家系中的鉴定
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作者：
gaoxue;suyu
PTPRQ基因突变与人类耳聋有关，这是由于静纤毛细胞缺陷所致。in.hair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。PTPRQ基因中的3125 A>G p.D1042 G（母本等位基因）和c.5981 A>G p.E1994 G（父本等位基因）是1572家系中感音神经性耳聋的原因。这两种变体与听力损失表型in.family 1572共分离，但在74例家族性患者中不存在。C.杂合性3125 A>G在两个中国人正常个体（656条染色体）中被鉴定。因此，该家系的听力损失是由PTPRQ的两个新的复合杂合突变引起的。
Abstract.Mutations inPTPRQare 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.from74 familial patients with ARNSHL and 656 ethnically matched control chromosomes to.perform extended variant analysis. We identified two novel compound heterozygous mis-sensemutations, c. 3125 A>G p.D1042G (maternal allele) and c.5981 A>G p.E1994G (pa-ternal allele), in thePTPRQgene, 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). There-fore, the hearing loss in this family was caused by two novel compound heterozygous muta-tions inPTPRQ.