<i>SLC26A4</i> Genotypes and Phenotypes Associated with Enlargement of the Vestibular Aqueduct
نویسندگان
چکیده
منابع مشابه
Audiologic presentation of enlargement of the vestibular aqueduct according to the SLC26A4 genotypes.
OBJECTIVES/HYPOTHESIS To determine the distribution of the number and types of mutant alleles of SLC26A4 and their correlations with hearing phenotypes in Korean bilateral enlargement of vestibular aqueduct (EVA) patients. STUDY DESIGN Prospective cohort study. METHODS To determine the number and type of mutant alleles, Sanger sequencing of coding region of SLC26A4 was performed for 56 pati...
متن کاملThe Human Vestibular Aqueduct: Anatomical Characteristics and Enlargement Criteria.
HYPOTHESIS The human vestibular aqueduct (VA) shows great anatomical variations, and imaging can be difficult, so we need more data on the normal anatomy of the VA for better radiologic evaluation of large vestibular aqueduct syndrome (LVAS). BACKGROUND The normal anatomy of the human VA was analyzed in micro-dissected human temporal bones. METHODS The study is based on two sets of human te...
متن کاملAtypical patterns of segregation of familial enlargement of the vestibular aqueduct.
OBJECTIVES/HYPOTHESIS Hearing loss and enlarged vestibular aqueduct (EVA) can be inherited as an autosomal recessive trait caused by mutant alleles of the SLC26A4 gene. In some other families, EVA does not segregate in a typical autosomal recessive pattern. The goal of this study was to characterize the SLC26A4 genotypes and phenotypes of extended families with atypical segregation of EVA. ST...
متن کاملUse of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct.
IMPORTANCE Approximately one-half of all subjects with unilateral or bilateral hearing loss with enlargement of the vestibular aqueduct (EVA) will have SLC26A4 gene mutations. The number (0, 1, or 2) of mutant alleles of SLC26A4 detected in an individual subject with EVA is each associated with a distinct combination of diagnostic and prognostic information as well as probability of recurrence ...
متن کاملCorrelation of vestibular aqueduct size with air-bone gap in enlarged vestibular aqueduct syndrome.
OBJECTIVES/HYPOTHESIS Patients with enlarged vestibular aqueduct (EVA) often demonstrate an air-bone gap (ABG) at low frequencies on audiometric testing. The mechanism for this has not been well elucidated. We investigated vestibular aqueduct (VA) size and ABG in patients with EVA, and assessed the relationship between VA diameter and ABG. STUDY DESIGN Retrospective review. METHODS We asses...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Cellular Physiology and Biochemistry
سال: 2011
ISSN: 1421-9778,1015-8987
DOI: 10.1159/000335119