TY - JOUR
T1 - Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct
AU - Chattaraj, Parna
AU - Reimold, Fabian R.
AU - Muskett, Julie A.
AU - Shmukler, Boris E.
AU - Chien, Wade W.
AU - Madeo, Anne C.
AU - Pryor, Shannon P.
AU - Zalewski, Christopher K.
AU - Butman, John A.
AU - Brewer, Carmen C.
AU - Kenna, Margaret A.
AU - Alper, Seth L.
AU - Griffith, Andrew J.
PY - 2013/9
Y1 - 2013/9
N2 - 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 of EVA in siblings. OBJECTIVE: To evaluate the results of SLC26A4 mutation testing in subjects with unilateral EVA. (The study objective was formulated before data were collected.) DESIGN: Prospective cross-sectional study of cohort ascertained between 1998 and 2012. SETTING: National Institutes of Health Clinical Center, a federal biomedical research facility. PARTICIPANTS: Twenty-four subjects (10 males, 14 females) with unilateral EVA, defined as a midpoint diameter greater than 1.5 mm, who were referred or self-referred to participate in a study about the clinical and molecular analysis of EVA. Twenty-one (87.5%) of 24 subjects were white. Mean age was 10.3 years (age range, 5-39 years). INTERVENTION: SLC26A4 mutation analysis. MAIN OUTCOMES AND MEASURES: Audiometric results, the presence or absence of EVA, and the number of mutant alleles of SLC26A4. RESULTS: Approximately 8.3%of the subjects with unilateral EVA had 2 mutant SLC26A4 alleles, 16.7%had 1 mutant allele, and 75.0%had 0 mutant alleles. CONCLUSIONS AND RELEVANCE: Unilateral EVA can be associated with all possible SLC26A4 genotype results. The distinct combination of prognoses and recurrence probability associated with each genotype supports the clinical use of testing for SLC26A4 mutations in subjects with unilateral EVA.
AB - 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 of EVA in siblings. OBJECTIVE: To evaluate the results of SLC26A4 mutation testing in subjects with unilateral EVA. (The study objective was formulated before data were collected.) DESIGN: Prospective cross-sectional study of cohort ascertained between 1998 and 2012. SETTING: National Institutes of Health Clinical Center, a federal biomedical research facility. PARTICIPANTS: Twenty-four subjects (10 males, 14 females) with unilateral EVA, defined as a midpoint diameter greater than 1.5 mm, who were referred or self-referred to participate in a study about the clinical and molecular analysis of EVA. Twenty-one (87.5%) of 24 subjects were white. Mean age was 10.3 years (age range, 5-39 years). INTERVENTION: SLC26A4 mutation analysis. MAIN OUTCOMES AND MEASURES: Audiometric results, the presence or absence of EVA, and the number of mutant alleles of SLC26A4. RESULTS: Approximately 8.3%of the subjects with unilateral EVA had 2 mutant SLC26A4 alleles, 16.7%had 1 mutant allele, and 75.0%had 0 mutant alleles. CONCLUSIONS AND RELEVANCE: Unilateral EVA can be associated with all possible SLC26A4 genotype results. The distinct combination of prognoses and recurrence probability associated with each genotype supports the clinical use of testing for SLC26A4 mutations in subjects with unilateral EVA.
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U2 - 10.1001/jamaoto.2013.4185
DO - 10.1001/jamaoto.2013.4185
M3 - Article
C2 - 24051746
AN - SCOPUS:84885811745
SN - 2168-6181
VL - 139
SP - 907
EP - 913
JO - JAMA Otolaryngology - Head and Neck Surgery
JF - JAMA Otolaryngology - Head and Neck Surgery
IS - 9
ER -