Novel heterozygous mutations in the otogelin-like (OTOGL) gene in a child with bilateral mild nonsyndromic sensorineural hearing loss

Gene(2022)

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摘要
•We were here for the first time to report a new OTOGL gene mutation.•This mutation caused bilateral mild nonsyndromic sensorineural hearing loss.•Two novel heterozygous mutations were found in the OTOGL gene.•The c.5038del (p.D1680Ifs*6) variant was inherited from the father, and the c.2770C > T (p.R924X) variant from the mother.
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关键词
OTOGL,NSHL,ABR,SRT,TEOAE,DPOAE,HRCT,vHIT,cVEMPs,oVEMPs,CP,VOR,BWA,CM,TM
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