Article
A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60.
Human genetics - 1 May 2016
Ben Said Mariem, Grati M'hamed, Ishimoto Takahiro, Zou Bing, Chakchouk Imen, Ma Qi, Yao Qi, Hammami Bouthaina, Yan Denise, Mittal Rahul, Nakamichi Noritaka, Ghorbel Abdelmonem, Neng Lingling, Tekin Mustafa, Shi Xiao Rui, Kato Yukio, Masmoudi Saber, Lu Zhongmin, Hmani Mounira, Liu Xuezhong
Abstract excerpt
The high prevalence/incidence of hearing loss (HL) in humans makes it the most common sensory defect. The majority of the cases are of genetic origin. Non-syndromic hereditary HL is extremely heterogeneous. Genetic approaches have been instrumental in deciphering genes that are crucial for auditory function. In this study, we first used NADf chip to exclude the implication of known North-African mutations in HL...
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