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Orphanet J Rare Dis:中国特雷切尔·柯林斯综合症家庭中TCOF1病理变异鉴定和听力重建效果研究

2019-07-31 AlexYang MedSci原创

特雷切尔·柯林斯综合(TC,OMIM 154500)是一种颅面部发育异常的常染色体疾病,新生儿的发病率为五万分之一。尽管TCOF1、POLR1D和POLR1C已经鉴定是大约90%的TCS患者的致病基因,而8%-11%的患者的致病变异仍旧不清楚。最近,有研究人员阐释了来源于4个家庭的14名临床诊断为TCS患者的分子基础,研究人员使用的是外显子组测序(WES),并利用Sanger测序进行了鉴定。之后,

特雷切尔·柯林斯综合(TC,OMIM 154500)是一种颅面部发育异常的常染色体疾病,新生儿的发病率为五万分之一。尽管TCOF1、POLR1D和POLR1C已经鉴定是大约90%的TCS患者的致病基因,而8%-11%的患者的致病变异仍旧不清楚。最近,有研究人员阐释了来源于4个家庭的14名临床诊断为TCS患者的分子基础,研究人员使用的是外显子组测序(WES),并利用Sanger测序进行了鉴定。之后,分析了骨传导听力重建对具有双边传导听力损失TCS患者的影响。

研究人员在TCOF1基因中鉴定了之前未有报道的杂合病理性变异(c.3047-2A>G、c.2478+5G>A、c.489delC和c.648delC)。Sanger测序确定了TCOF1基因与表型共分离。听力干预后3个月的平均的纯音听力阈值改善分别为soft-band BAHA 28.8dB、Ponto移植 36.6±2.0dB和骨桥移植27.5dB SPL。另外,听力干预后3个月的平均言语区分改善到65dB SPL水平的分别占比44%、51.25±5.06和58%。所有经历听力重建的患者得到了满意的听力改善。

最后,研究人员指出,WES组合Sanger能够改善TCS的分子诊断,并且能够检测未知的致病基因。骨传导听力重建可能是具有双边传导性听力损失TCS患者的最好选择。

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    2020-01-16 canlab
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    2019-08-02 ysjykql
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    2019-07-31 CHANGE

    疗效只是效果的众多方面之一,还要看对患者的获益,包括生活质量等因素共同决定效果的

    0

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