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常染色体显性遗传性视神经萎缩与中度耳聋的关联可能归因于OPA1基因中的R445H突变。

The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene.

作者信息

Amati-Bonneau Patrizia, Odent Sylvie, Derrien Christelle, Pasquier Laurent, Malthiéry Yves, Reynier Pascal, Bonneau Dominique

机构信息

INSERM E0018 et Laboratoire de Biochimie et Biologie moléculaire, CHU Angers, Angers, France.

出版信息

Am J Ophthalmol. 2003 Dec;136(6):1170-1. doi: 10.1016/s0002-9394(03)00665-2.

DOI:10.1016/s0002-9394(03)00665-2
PMID:14644237
Abstract

PURPOSE

To examine the involvement of the optic atrophy 1 (OPA1) gene in optic atrophy associated with moderate deafness.

DESIGN

Observational case report. 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.

摘要

目的

研究视神经萎缩1（OPA1）基因与中度耳聋相关的视神经萎缩的关系。

设计

观察性病例报告。对一名患有与中度耳聋相关的视神经萎缩患者的OPA1基因的整个编码序列进行直接测序。

结果

发现OPA1基因存在一个新生杂合突变R445H。在患者的父母或100个染色体对照中均未检测到类似突变。

结论

OPA1基因中的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，这种表型目前可能诊断不足。

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