A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings
نویسندگان
چکیده
منابع مشابه
Studying VEMP in Sudden Sensorineural Hearing Loss
Introduction: Sudden sensorineural hearing loss (SSNHL) has a prevalence of 10 in 100,000. Viral infections, vascular obstruction and rupture of the intracochlear membranes are supposed to be its most common etiologies. About 40% of patients experience vertigo or imbalance. The VEMP (vestibular evoked myogenic potentials) test is a known approach for detailed study of the labyrinth. The advant...
متن کاملProgression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1).
OBJECTIVE To assess the audiometric profile and speech recognition characteristics in affected members of 2 families with DFNA6/14 harboring heterozygous mutations in the WFS1 gene that cause an autosomal dominant nonsyndromic sensorineural hearing impairment trait. DESIGN Family study. SETTING Tertiary referral center. Patients Thirteen patients from 2 recently identified Dutch families wi...
متن کاملAutosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1
PURPOSE To describe the phenotype of a novel Wolframin (WFS1) mutation in a family with autosomal dominant optic neuropathy and deafness. The study is designed as a retrospective observational case series. METHODS Seven members of a Dutch family underwent ophthalmological, otological, and genetical examinations in one institution. Fasting serum glucose was assessed in the affected family memb...
متن کاملa novel de novo dominant mutation in gjb2 gene associated with a sporadic case of nonsyndromic sensorineural hearing loss.
mutations in the gjb2 gene are the most common known cause of hereditary congenital hearing loss. rapid genomic dna extraction (rgde) method was used for genomic dna extraction. after amplification of coding region of cx26 gene with specific primers, expected pcr products with 724bp length were subjected to direct sequencing in both directions. we describe here a novel heterozygous -t to -c tra...
متن کاملMutations in the Wolfram syndrome type 1 gene (WFS1) define a clinical entity of dominant low-frequency sensorineural hearing loss.
OBJECTIVE To describe low-frequency sensorineural hearing loss (LFSNHL) inherited as a dominant trait in 3 families and in 1 sporadic case. DESIGN Longitudinal clinical study from 1968 to 2001. SETTING Tertiary care hospital; field studies conducted by molecular genetic research laboratory. PARTICIPANTS Dominant LFSNHL families. INTERVENTIONS Questionnaires, serial audiograms, and inter...
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ژورنال
عنوان ژورنال: BMC Medical Genetics
سال: 2008
ISSN: 1471-2350
DOI: 10.1186/1471-2350-9-48