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Phosphatidylinositol 4-kinase β mutations cause nonsyndromic sensorineural deafness and inner ear malformation

Journal of Genetics and Genomics 2020年第10期47卷 618-626页

作者： Xiulan Su Yufei Feng Sofia A.Rahman Shuilong Wu Guoan Li Franz Rüschendorf Lei Zhao Hongwei Cui Junqing Liang Liang Fang Hao Hu Sebastian Froehler Yong Yu Giannino Patone Oliver Hummel Qinghua Chen Klemens Raile Friedrich C.Luft Sylvia Bahring Khalid Hussain Wei Chen Jingjing Zhang maolian gong Clinical Medicine Research Center Affiliated Hospital of Inner Mongolia Medical UniversityHuhhot010050China Affiliated Hospital of Guangdong Medical University&Key Laboratory of Zebrafish Model for Development and Disease of Guangdong Medical University Zhanjiang524001China Marine Medical Research Institute of Guangdong Zhanjiang Zhanjiang524023China Genomic Medicine Programme UCL Institute of Child Health and Great Ormond Street Hospital for Children30 Guilford StreetLondonWC1N 1EHUK Max-Delbrueck-Center for Molecular Medicine(MDC) Robert-Roessle-Str.10Berlin13125Germany Department of Radiology Affiliated Hospital of Inner Mongolia Medical UniversityHuhhot010050China Affiliated People Hospital of Inner Mongolia Medical University Huhhot010050China Department of Biology Southern University of Science and TechnologyShenzhen518055China Guangzhou Women and Children's Medical Center Guangzhou510623China Department of Radiology Beijing Tongren HospitalCapital Medical UniversityBeijing100730China Experimental and Clinical Research Center(ECRC) A Joint Cooperation Between the Charite Medical Faculty and the Max-Delbrueck-Center for Molecular Medicine in the Helmholtz Association(MDC)Lindenberger Weg.80Berlin13125Germany Department of Paediatric Medicine Division of Endocrinology Sidra Medical&Research CenterOPCDohaC6-337Qatar Medi-X Institute SUSTec Academy for Advanced Interdisciplinary StudiesSouthern University of Science and TechnologyShenzhen518055China

Congenital hearing loss is a common disorder worldwide.Heterogeneous gene variation accounts for approximately 20-25%of such patients.We 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 patients.Computed 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 aqueduct.Such findings were absent in nonaffected persons.We used linkage analysis and exome sequencing and uncovered a heterozygous missense mutation in the PI4 KB gene(p.Gln121 Arg)encoding phosphatidylinositol 4-kinaseβ(PI4 KB)from the patients in this family.In addition,3 missense PI4 KB(p.Val434 Gly,p.Glu667 Lys,and p.Met739 Arg)mutations were identified in five patients with nonsyndromic SNHL from 57 sporadic cases.No such mutations were present within 600 Chinese controls,the 1000 genome project,gnom AD,or similar databases.Depleting pi4 kb m RNA expression in zebrafish caused inner ear abnormalities and audiosensory impairment,mimicking the patient phenotypes.Moreover,overexpression of 4 human missense PI4 KB mutant m RNAs in zebrafish embryos resulted in impaired hearing function,suggesting dominant-negative effects.Taken together,our results reveal that PI4 KB mutations can cause SNHL and inner ear malformation.PI4 KB should be included in neonatal deafness screening.

关键词： Congenital sensorineural hearing loss Inner ear malformation Phosphatidylinositol 4-kinaseβ Mutations Zebrafish

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