Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction

被引：92

作者：

Naz, S

Griffith, AJ

Riazuddin, S

Hampton, LL

Battey, JF

Khan, SN

Riazuddin, S

Wilcox, ER

Friedman, TB ^{[1
]}

机构：

[1] NIDCD, Sect Human Genet, Mol Genet Lab, NIH, Rockville, MD 20850 USA

[2] NIDCD, Sect Gene Struct & Funct, LMG, NIH, Rockville, MD USA

[3] NIDCD, Hearing Sect, NIH, Rockville, MD USA

[4] NINDS, Sect G Prot Coupled Receptors, NIH, Bethesda, MD 20892 USA

[5] Univ Punjab, Natl Ctr Excellence Mol Biol, Lahore, Pakistan

来源：

JOURNAL OF MEDICAL GENETICS | 2004年 / 41卷 / 08期

关键词：

D O I：

10.1136/jmg.2004.018523

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We mapped a human deafness locus DFNB36 to chromosome 1p36.3 in two consanguineous families segregating recessively inherited deafness and vestibular areflexia. This phenotype co-segregates with either of two frameshift mutations, 1988delAGAG and 2469delGTCA, in ESPN, which encodes a calcium-insensitive actin-bundling protein called espin. A recessive mutation of ESPN is known to cause hearing loss and vestibular dysfunction in the jerker mouse. Our results establish espin as an essential protein for hearing and vestibular function in humans. The abnormal vestibular phenotype associated with ESPN mutations will be a useful clinical marker for refining the differential diagnosis of nonsyndromic deafness.

引用

页码：591 / 595

页数：5

共 18 条

[1] Mutations of MYO6 are associated with recessive deafness, DFNB37 [J].