PLS1 gene(OMMI:602734)encodes PLS1 protein.PLS1 protein,an actin binding protein,is ex-pressed in cells of the transverse colon,the end of the small intestine and the inner ear.It is involved in the composition of microvilli and contributes to the stability of the stereocilium.Studies have found that the PLS1 gene mutation will lead to the destruction of its expression of PLS 1 protein,resulting in varying degrees of mild to severe progressive high-frequency hearing loss and sensorineural deafness.Several cases of autosomal dominant non-syndromic hearing loss due to base substitution mutations in the PLS1 gene have been reported worldwide.In this paper,we will review the re-search progress of nonsyndromic hereditary hearing loss caused by PLS1 gene mutations.
维普
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