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SLC26A4 mutation testing for hearing loss associated with enlargement of the vestibular aqueduct

World Journal of Otorhinolaryngology 2013年第2期3卷 26-34页

作者： Taku Ito Julie Muskett parna chattaraj Byung Yoon Choi Kyu Yup Lee Christopher K Zalewski Kelly A King Xiangming Li Philine Wangemann Thomas Shawker Carmen C Brewer Seth L Alper Andrew J Griffith Otolaryngology Branch National Institute on Deafness and Other Communication Disorders National Institutes of Health Rockville MD 20850 United States Laboratory of Molecular Genetics National Institute on Deafness and Other Communication Disorders National Institutes of Health Rockville MD 20850 United States Anatomy and Physiology Department Kansas State University Manhattan KS 66506 United States Diagnostic Radiology Department Warren G. Magnuson Clinical Center National Institutes of Health Bethesda MD 20892 United States Renal Division Beth Israel Deaconess Medical Center Harvard Medical School Boston MA 02215 United States

nPendred syndrome （PS） is characterized by autosomal recessive inheritance of goiter associated with a defect of iodide organification, hearing loss, enlargement of the vestibular aqueduct （EVA）, and mutations of the SLC26A4 gene. However, not all EVA patients have PS or SLC26A4 mutations. Two mutant alleles of SLC26A4 are detected in 1/4 of North American or European EVA populations, one mutant allele is detected in another 1/4 of patient populations, and no mutations are de-tected in the other 1/2. The presence of two mutant al-leles of SLC26A4 is associated with abnormal iodide or-ganification, increased thyroid gland volume, increased severity of hearing loss, and bilateral EVA. The pres-ence of a single mutant allele of SLC26A4 is associated with normal iodide organification, normal thyroid gland volume, less severe hearing loss and either bilateral or unilateral EVA. When other underlying correlations are accounted for, the presence of a cochlear malformation or the size of EVA does not have an effect on hearing thresholds. This is consistent with observations of an Slc26a4 mutant mouse model of EVA in which hearing loss is independent of endolymphatic hydrops or in-ner ear malformations. Segregation analyses of EVA in families suggest that the patients carrying one mutant allele of SLC26A4 have a second, undetected mutant allele of SLC26A4, and the probability of a sibling hav-ing EVA is consistent with its segregation as an autoso-mal recessive trait. Patients without any mutations are an etiologically heterogeneous group in which siblings have a lower probability of having EVA. SLC26A4 muta-tion testing can provide prognostic information to guide clinical surveillance and management, as well as the probability of EVA affecting a sibling.

关键词： SLC26A4 Pendred syndrome Genetic test-ing Goiter Hearing loss Vestibular aqueduct Genotype-phenotype correlation

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