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.
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 losspatients 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.
Authors: 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 Journal: World J Otorhinolaryngol Date: 2013-05-28
Authors: Jeroen J Smits; Suzanne E de Bruijn; Cornelis P Lanting; Jaap Oostrik; Luke O'Gorman; Tuomo Mantere; Frans P M Cremers; Susanne Roosing; Helger G Yntema; Erik de Vrieze; Ronny Derks; Alexander Hoischen; Sjoert A H Pegge; Kornelia Neveling; Ronald J E Pennings; Hannie Kremer Journal: Hum Genet Date: 2021-08-19 Impact factor: 5.881
Authors: Byung Yoon Choi; Andrew K Stewart; Katherine K Nishimura; Won Jae Cha; Moon-Woo Seong; Sung Sup Park; Seung Won Kim; Yang Sook Chun; Jong Woo Chung; Shi-Nae Park; Sun O Chang; Chong-Sun Kim; Seth L Alper; Andrew J Griffith; Seung-Ha Oh Journal: Genet Test Mol Biomarkers Date: 2009-10