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Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib.

作者信息

Cuevas J M, Espinós C, Millán J M, Sánchez F, Trujillo M J, García-Sandoval B, Ayuso C, Nájera C, Beneyto M

机构信息

Departamento de Genética, Universidad de Valencia, Valencia, Spain.

出版信息

Mol Cell Probes. 1998 Dec;12(6):417-20. doi: 10.1006/mcpr.1998.0202.

DOI:10.1006/mcpr.1998.0202
PMID:9843659
Abstract

A Spanish family with three Usher I syndrome-affected members was linked to markers located on chromosome 11q. A search for mutations on the myosin VIIA gene revealed a novel mutation (Cys628STOP) on exon 16 segregating with the disorder in a homozygous state. This nonsense mutation could be responsible for the disease since it leads to a truncated protein that presumably has no function.

摘要

相似文献

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引用本文的文献

1
MYO7A mutation screening in Usher syndrome type I patients from diverse origins.对来自不同地区的Ⅰ型Usher综合征患者进行MYO7A基因突变筛查。
J Med Genet. 2007 Mar;44(3):e71. doi: 10.1136/jmg.2006.045377.
2
Myosins and deafness.肌球蛋白与耳聋
J Muscle Res Cell Motil. 1999 Apr;20(3):241-8. doi: 10.1023/a:1005403725521.
3
Myosin VIIa participates in opsin transport through the photoreceptor cilium.肌球蛋白VIIa通过光感受器纤毛参与视蛋白运输。
J Neurosci. 1999 Aug 1;19(15):6267-74. doi: 10.1523/JNEUROSCI.19-15-06267.1999.