منابع مشابه
Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction.
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 ...
متن کاملA Novel ENU-Induced Mutation in Myo6 Causes Vestibular Dysfunction and Deafness
Mouse N-ethyl-N-nitrosourea (ENU) mutagenesis has generated many useful animal models for human diseases. Here we describe the identification of a novel ENU-induced mouse mutant strain Turner (Tur) that displays circling and headtossing behavior and progressive hearing loss. Tur/Tur homozygous animals lack Preyer and righting reflexes and display severe headtossing and reaching response defect....
متن کاملCochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction.
Seven missense mutations and one in-frame deletion mutation have been reported in the coagulation factor C homology (COCH) gene, causing the adult-onset, progressive sensorineural hearing loss and vestibular disorder at the DFNA9 locus. Prevalence of COCH mutations worldwide is unknown, as there is no systematic screening effort for late-onset hearing disorders; however, to date, COCH mutations...
متن کاملvestibular rehabilitation outcomes in the elderly with chronic vestibular dysfunction
background chronic vestibular dysfunction is a frustrating problem in the elderly and can have a tremendous impact on their life, but only a few studies are available. vestibular rehabilitation therapy (vrt) is an important therapeutic option for the neuro-otologist in treating patients with significant balance deficits. objectives the purpose of this study was to assess the effect of vestibula...
متن کاملResidual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population
INTRODUCTION The contribution of Gap junction beta-2 protein (GJB2) to the genetic load of deafness and its mutation spectra vary among different ethnic groups. OBJECTIVE In this study, the mutation spectrum and audiologic features of patients with GJB2 mutations were evaluated with a specific focus on residual hearing. METHODS An initial cohort of 588 subjects from 304 families with varyin...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2011
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.33828