Document Detail

Clinical characteristics and genotype-phenotype correlation of hearing loss patients with SLC26A4 mutations.
MedLine Citation:
PMID:  17851929     Owner:  NLM     Status:  MEDLINE    
CONCLUSIONS: The present study confirmed the clinical characteristics of patients with SLC26A4 mutations: congenital, fluctuating, and progressive hearing loss usually associated with vertigo and/or goiter during long-term follow-up. This clarification should help to facilitate appropriate genetic counseling and proper medical management for patients with these mutations, but there was no particular genotype-phenotype correlation among them, suggesting that other factors may contribute to such variability. OBJECTIVES: Due to the wide range of phenotypes caused by SLC26A4 mutations, there is controversy with regard to genotype-phenotype correlation. The present study was performed: (1) to determine phenotypic range in patients with biallelic SLC26A4 mutations, and (2) to evaluate whether possible genotype-phenotype correlation exists. SUBJECTS AND METHODS: Phenotypes in 39 hearing loss patients with SLC26A4 mutations were summarized and genotype-phenotype correlation was analyzed. RESULTS: Hearing level varied in the individuals from mild to profound severity. Most of the patients had fluctuating and progressive hearing loss that may have been of prelingual onset. Twenty-four (70.6%) patients had episodes of vertigo, and 10 (27.8%) patients had goiter, which had appeared at age 12 or older. In contrast to such phenotypic variabilities, no apparent correlation was found between these phenotypes and their genotypes.
Hiroaki Suzuki; Aki Oshima; Koji Tsukamoto; Satoko Abe; Kozo Kumakawa; Kyoko Nagai; Hitoshi Satoh; Yukihiko Kanda; Satoshi Iwasaki; Shin-ichi Usami
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Acta oto-laryngologica     Volume:  127     ISSN:  0001-6489     ISO Abbreviation:  Acta Otolaryngol.     Publication Date:  2007 Dec 
Date Detail:
Created Date:  2008-06-16     Completed Date:  2008-08-04     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0370354     Medline TA:  Acta Otolaryngol     Country:  Norway    
Other Details:
Languages:  eng     Pagination:  1292-7     Citation Subset:  IM    
Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan.
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MeSH Terms
Asian Continental Ancestry Group
Child, Preschool
Goiter / etiology
Hearing Loss, Sensorineural / complications,  genetics*,  pathology
Membrane Transport Proteins / genetics*
Middle Aged
Retrospective Studies
Vertigo / etiology
Vestibular Aqueduct / pathology*
Reg. No./Substance:
0/Membrane Transport Proteins; 0/SLC26A4 protein, human

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