Congenital hearing loss is a common disorder *** gene variation accounts for approximately 20-25%of such *** investigated a five-generation Chinese family with autosomaldominant nonsyndromic sensorineural hearing loss...
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Congenital hearing loss is a common disorder *** gene variation accounts for approximately 20-25%of such *** investigated a five-generation Chinese family with autosomaldominant nonsyndromic sensorineural hearing loss(SNHL).No wave was detected in the pure-tone audiometry,and the auditory brainstem response was absent in all *** tomography of the patients,as well as of two sporadic SNHL cases,showed bilateral inner ear anomaly,cochlear maldevelopment,absence of the osseous spiral lamina,and an enlarged vestibular *** findings were absent in nonaffected *** used linkage analysis and exome sequencing and uncovered a heterozygous missense mutation in the PI4 KB gene(***121 Arg)encoding phosphatidylinositol 4-kinaseβ(PI4 KB)from the patients in this *** addition,3 missense PI4 KB(***434 Gly,***667 lys,and ***739 Arg)mutations were identified in five patients with nonsyndromic SNHL from 57 sporadic *** such mutations were present within 600 Chinese controls,the 1000 genome project,gnom AD,or similar *** pi4 kb m RNA expression in zebrafish caused inner ear abnormalities and audiosensory impairment,mimicking the patient ***,overexpression of 4 human missense PI4 KB mutant m RNAs in zebrafish embryos resulted in impaired hearing function,suggesting dominant-negative *** together,our results reveal that PI4 KB mutations can cause SNHL and inner ear ***4 KB should be included in neonatal deafness screening.
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