SLC26A4 Genotype, But Not Cochlear Radiologic Structure, Is Correlated With Hearing Loss in Ears With an Enlarged Vestibular Aqueduct

被引：58

作者：

King, Kelly A. ^{[1
,2
]}

Choi, Byung Yoon ^{[3
]}

Zalewski, Christopher ^{[1
]}

Madeo, Anne C. ^{[1
,4
]}

Manichaikul, Ani ^{[5
]}

Pryor, Shannon P. ^{[1
]}

Ferruggiaro, Anne ^{[2
]}

Eisenman, David ^{[6
]}

Kim, H. Jeffrey ^{[1
,7
]}

Niparko, John ^{[8
]}

Thomsen, James ^{[9
]}

Butman, John A. ^{[10
]}

Griffith, Andrew J. ^{[1
]}

Brewer, Carmen C. ^{[1
]}

机构：

[1] Natl Inst Deafness & Other Commun Disorders, Otolaryngol Branch, NIH, Rockville, MD USA

[2] Univ Maryland, Hearing & Speech Sci Dept, College Pk, MD 20742 USA

[3] Natl Inst Deafness & Other Commun Disorders, Mol Genet Lab, NIH, Rockville, MD USA

[4] NHGRI, Social & Behav Res Branch, NIH, Bethesda, MD 20892 USA

[5] Univ Virginia, Dept Biomed Engn, Charlottesville, VA USA

[6] Univ Maryland, Sch Med, Dept Otorhinolaryngol Head & Neck Surg, Baltimore, MD 21201 USA

[7] Georgetown Univ Hosp, Dept Otolaryngol Head & Neck Surg, Washington, DC 20007 USA

[8] Johns Hopkins Sch Med, Dept Otolaryngol Head & Neck Surg, Baltimore, MD USA

[9] Pediat Ear Nose & Throat Atlanta, Atlanta, GA USA

[10] NIH, Dept Diagnost Radiol, Warren G Magnuson Clin Ctr, Bethesda, MD 20892 USA

来源：

LARYNGOSCOPE | 2010年 / 120卷 / 02期

基金：

美国国家卫生研究院;

关键词：

Enlarged vestibular aqueduct; SLC26A4; hearing; PENDRED-SYNDROME GENE; TERM-FOLLOW-UP; PHENOTYPE CORRELATION; PEDIATRIC POPULATION; MONDINI DYSPLASIA; MUTATIONS; PDS; CHILDREN; DEAFNESS; BONE;

D O I：

10.1002/lary.20722

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

Objectives/Hypothesis: Identify correlations among SLC26A4 genotype, cochlear structural anomalies, and hearing loss associated with enlargement of the vestibular aqueduct (EVA). Study Design: Prospective cohort survey, National Institutes of Health, Clinical Center, a federal biomedical research facility. Methods: Eighty-three individuals, 11 months to 59 years of age, with EVA in at least one ear were studied. Correlations among pure-tone hearing thresholds, number of mutant SLC26A4 alleles, and the presence of cochlear anomalies detected by computed tomography or magnetic resonance imaging were examined. Results: Linear mixed-effects model indicated significantly poorer hearing in ears with EVA in individuals with two mutant alleles of SLC26A4 than in those with EVA and a single mutant allele (P = .012) or no mutant alleles (P = .007) in this gene. There was no detectable relationship between degree of hearing loss and the presence of structural cochlear anomalies. Conclusions: The number of mutant alleles of SLC26A4, but not the presence of cochlear anomalies, has a significant association with severity of hearing loss in ears with EVA. This information will be useful for prognostic counseling of patients and families with EVA.

引用

页码：384 / 389

页数：6

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