NLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness.
NLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness.
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NLRP3 在螺旋神经节神经元中表达，与综合征性和非综合征性感音神经性耳聋相关
DOI：
10.1155/2016/3018132
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发表时间：
2016
影响因子：
3.1
通讯作者：
Wu H
中科院分区：
文献类型：
--
作者：
Chen P;He L;Pang X;Wang X;Yang T;Wu H
非综合征性耳聋是遗传异质性的，但在许多情况下表型相似。尽管最近开发了多种靶向下一代测序（NGS）面板以促进非综合征性耳聋的遗传筛查，但面板之外的一些综合征性耳聋基因可能导致与非综合征性耳聋相似的临床表型。在这项研究中，我们对一个优势家族进行了全面的遗传筛查，其中先证者最初被诊断为非综合征性耳聋。在72个非综合征型和72个综合征型耳聋基因中，NGS检测未发现致病性突变。然而，全外显子组测序鉴定出NLRP 3中的p.E313K突变，NLRP 3是一种据报道引起综合征性耳聋的基因，但在以前的报道中未包括在任何针对耳聋的靶向NGS面板中。随访的临床评价显示，除了耳聋之外，9名受影响的成员中有6名只有轻微的炎症症状，而其余3名受影响的成员，包括先证者，没有明显的MWS相关炎症症状。免疫组化显示NLRP 3在螺旋神经节神经元中有强表达。我们的研究结果表明，NLRP 3可能在螺旋神经节神经元中具有特异性功能，并可能与综合征和非综合征感音神经性耳聋有关。
Nonsyndromic deafness is genetically heterogeneous but phenotypically similar among many cases. Though a variety of targeted next-generation sequencing (NGS) panels has been recently developed to facilitate genetic screening of nonsyndromic deafness, some syndromic deafness genes outside the panels may lead to clinical phenotypes similar to nonsyndromic deafness. In this study, we performed comprehensive genetic screening in a dominant family in which the proband was initially diagnosed with nonsyndromic deafness. No pathogenic mutation was identified by targeted NGS in 72 nonsyndromic and another 72 syndromic deafness genes. Whole exome sequencing, however, identified a p.E313K mutation in NLRP3, a gene reported to cause syndromic deafness Muckle-Wells Syndrome (MWS) but not included in any targeted NGS panels for deafness in previous reports. Follow-up clinical evaluation revealed only minor inflammatory symptoms in addition to deafness in six of the nine affected members, while the rest, three affected members, including the proband had no obvious MWS-related inflammatory symptoms. Immunostaining of the mouse cochlea showed a strong expression of NLRP3 in the spiral ganglion neurons. Our results suggested that NLRP3 may have specific function in the spiral ganglion neurons and can be associated with both syndromic and nonsyndromic sensorineural deafness.
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影响因子：
3.7
作者：
Mutai H;Suzuki N;Shimizu A;Torii C;Namba K;Morimoto N;Kudoh J;Kaga K;Kosaki K;Matsunaga T
通讯作者：
Matsunaga T
在听力受损的个体中，有针对性的聋哑基因的下一代测序揭示了信息性突变。
DOI：
10.1038/gim.2014.65
发表时间：
2014-12
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
通讯作者：
--
影响因子：
4
作者：
Shearer AE;Black-Ziegelbein EA;Hildebrand MS;Eppsteiner RW;Ravi H;Joshi S;Guiffre AC;Sloan CM;Happe S;Howard SD;Novak B;Deluca AP;Taylor KR;Scheetz TE;Braun TA;Casavant TL;Kimberling WJ;Leproust EM;Smith RJ
通讯作者：
Smith RJ
DOI：
10.1038/nrg3463
发表时间：
2013-04
期刊：
Nature reviews. Genetics
影响因子：
--
作者：
通讯作者：
--
卡非佐米和伏立诺他在 T 细胞白血病/淋巴瘤中的治疗潜力和功能相互作用。
影响因子：
--
作者：
Gao M;Chen G;Wang H;Xie B;Hu L;Kong Y;Yang G;Tao Y;Han Y;Wu X;Zhang Y;Dai B;Shi J
通讯作者：
Shi J