The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene
The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene
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DOI：
10.1016/s0002-9394(03)00665-2
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发表时间：
2003-12-01
影响因子：
4.2
通讯作者：
Bonneau, D
中科院分区：
文献类型：
--
作者：
Amati-Bonneau, P;Odent, S;Bonneau, D
目的：探讨视神经萎缩1 （OPA1）基因在中度耳聋相关视神经萎缩中的作用。设计：观察性病例报告。方法：对1例中度耳聋伴视神经萎缩患者的全基因编码序列进行直接测序。结果：在OPA1基因中发现一个新生杂合突变R445H。在患者的父母或100个染色体对照组中均未检测到类似的突变。结论：OPA1的R445H突变可能是显性视神经萎缩与中度耳聋之间关联的原因，这一表型目前可能未被充分诊断。(C) 2003年Elsevier Inc.版权所有。
PURPOSE: To examine the involvement of the Optic atrophy 1 (OPA1) gene in optic atrophy associated with moderate deafness.DESIGN: Observational case report.METHOD: The entire coding sequence of the OPA1 gene was directly sequenced in the case of a patient suffering from optic atrophy associated with moderate deafness.RESULTS: A de novo heterozygous mutation R445H in the OPA1 gene was found. No similar mutation was detected in either of the patient's parents or in the 100 chromosome controls.CONCLUSION: The R445H mutation in OPA1 might be the cause of the association between dominant optic atrophy and moderate deafness, a phenotype that may be currently underdiagnosed. (C) 2003 by Elsevier Inc. All rights reserved.