Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct

Samuel Reyes, Guojian Wang, Xiaomei Ouyang, Bing Han, Li Lin Du, Hui Jun Yuan, Denise Yan, Pu Dai, Xue Z Liu

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

Objective: We have characterized the spectrum of SLC26A4 mutations and clinical features in a population of mainland Chinese patients with nonsyndromic sensorineural hearing loss (SNHL) and enlarged vestibular aqueduct (EVA). Study Design: Cross-sectional clinical genetic study. Setting: Tertiary care outpatient otolaryngology clinic. Methods: A total of 32 subjects identified with bilateral EVA using high-resolution CT were screened for mutations in SLC26A4 by denaturing high-performance liquid chromatography and direct sequencing methods. Results: A total of 13 different mutations were identified in the SLC26A4 gene, five of which are novel. A total of 88 percent of the patients harbored biallelic mutations, 11 patients were homozygotes, and 17 were compound heterozygotes. Four patients were found to carry a single SLC26A4 mutation. The IVS7-2A>G mutation was the most frequent, accounting for 60 percent of the mutant alleles. We have not found any correlations between the type of SLC26A4 mutations and the type, degree, and progression of hearing loss. There are significant proportions of patients with asymmetric (26%), progressive (32%), or fluctuating hearing loss (21%). Conclusion: Our data confirm the high prevalence of SLC26A4 mutations in Chinese patients with SNHL and EVA. We could not establish any relationship between genotype and phenotype. However, the high incidence of asymmetric, progressive, and fluctuating hearing loss found in the current study indicates that patients with those features should be routinely screened for SLC26A4 mutation in addition to diagnosis of EVA using CT or MRI.

Original languageEnglish
Pages (from-to)502-508
Number of pages7
JournalOtolaryngology - Head and Neck Surgery
Volume141
Issue number4
DOIs
StatePublished - Oct 1 2009

Fingerprint

Mutation
Hearing Loss
Enlarged Vestibular Aqueduct
Sensorineural Hearing Loss
Otolaryngology
Homozygote
Tertiary Healthcare
Heterozygote
Ambulatory Care Facilities
Cross-Sectional Studies
Alleles
Genotype
High Pressure Liquid Chromatography
Phenotype
Incidence
Population
Genes

ASJC Scopus subject areas

  • Otorhinolaryngology
  • Surgery

Cite this

Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct. / Reyes, Samuel; Wang, Guojian; Ouyang, Xiaomei; Han, Bing; Du, Li Lin; Yuan, Hui Jun; Yan, Denise; Dai, Pu; Liu, Xue Z.

In: Otolaryngology - Head and Neck Surgery, Vol. 141, No. 4, 01.10.2009, p. 502-508.

Research output: Contribution to journalArticle

Reyes, Samuel ; Wang, Guojian ; Ouyang, Xiaomei ; Han, Bing ; Du, Li Lin ; Yuan, Hui Jun ; Yan, Denise ; Dai, Pu ; Liu, Xue Z. / Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct. In: Otolaryngology - Head and Neck Surgery. 2009 ; Vol. 141, No. 4. pp. 502-508.
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abstract = "Objective: We have characterized the spectrum of SLC26A4 mutations and clinical features in a population of mainland Chinese patients with nonsyndromic sensorineural hearing loss (SNHL) and enlarged vestibular aqueduct (EVA). Study Design: Cross-sectional clinical genetic study. Setting: Tertiary care outpatient otolaryngology clinic. Methods: A total of 32 subjects identified with bilateral EVA using high-resolution CT were screened for mutations in SLC26A4 by denaturing high-performance liquid chromatography and direct sequencing methods. Results: A total of 13 different mutations were identified in the SLC26A4 gene, five of which are novel. A total of 88 percent of the patients harbored biallelic mutations, 11 patients were homozygotes, and 17 were compound heterozygotes. Four patients were found to carry a single SLC26A4 mutation. The IVS7-2A>G mutation was the most frequent, accounting for 60 percent of the mutant alleles. We have not found any correlations between the type of SLC26A4 mutations and the type, degree, and progression of hearing loss. There are significant proportions of patients with asymmetric (26{\%}), progressive (32{\%}), or fluctuating hearing loss (21{\%}). Conclusion: Our data confirm the high prevalence of SLC26A4 mutations in Chinese patients with SNHL and EVA. We could not establish any relationship between genotype and phenotype. However, the high incidence of asymmetric, progressive, and fluctuating hearing loss found in the current study indicates that patients with those features should be routinely screened for SLC26A4 mutation in addition to diagnosis of EVA using CT or MRI.",
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