一个CDH23基因新型复合杂合突变导致的耳聋家系分析
Identifications of the Novel Mutants on CDH23 Gene in a Family with Non-syndromic Hereditary Deafness
孙毅;葛雨彤;刘雅琳;韩庆亚;郑宏
1:山东省康复医院
摘要关键词基金项目(Foundation):作者参考文献[1] BORK J M,PETERS L M,RIAZUDDIN S,et al.Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23[J].Am J Hum Genet,2001,68(1):26-37.
[2] CHEN Y,LI Y,REN Y,et al.Identification of a novel CDH23 gene variant associated with non-syndromic progressive hearing loss in a Chinese family:individualized hearing rehabilitation guided by genetic diagnosis[J].Int J Pediatr Otorhinolaryngol,2019,127:109649.
[3] KANG B,LU X,XIONG J,et al.Identification of four novel variants in the CDH23 gene from four affected families with hearing loss[J].Front Genet,2022,17(13):1027396.
[4] KAZMIERCZAK P,SAKAGUCHI H,TOKITA J,et al.Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells[J].Nature,2007,449(7158):87-91.
[5] AMMAR-KHODJA F,FAUGèRE V,BAUX D,et al.Molecular screening of deafness in Algeria:high genetic heterogeneity involving DFNB1 and the Usher loci,DFNB2/USH1B,DFNB12/USH1D and DFNB23/USH1F[J].Eur J Med Genet,2009,52(4):174-179.
[6] BOLZ H,VON BREDERLOW B,RAMíREZ A,et al.Mutation of CDH23,encoding a new member of the cadherin gene family,causes Usher syndrome type 1D[J].Nat Genet,2001,27(1):108-112.
[7] USAMI S I,ISAKA Y,MIYAGAWA M,et al.Variants in CDH23 cause a broad spectrum of hearing loss:from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss[J].Hum Genet,2022 ,141(3-4):903-914.
[8] MORI K,MOTEKI H,MIYAGAWA M,et al.Social health insurance-based simultaneous screening for 154 mutations in 19 deafness genes efficiently identified causative mutations in Japanese hearing loss patients[J].PLoS One,2016,11(9):e0162230.
[9] 王秋菊，沈亦平，陈少科，等.遗传变异分类标准与指南[J].中国科学：生命科学，2017,47(6):668-688.
[10] WU H,FENG Y,JIANG L,et al.Application of a new genetic deafness microarray for detecting mutations in the deaf in China[J].PLoS One,2016,11(3):e0151909.
[11] TRUONG B T,YARZA T K L,BOOTPETCH ROBERTS T,et al.Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees[J].Clin Genet,2019,95(5):634-636.
[12] ALKOWARI M K,VOZZI D,BHAGAT S,et al.Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families[J].Mutat Res,2017(800-802):29-36.
[13] MENGHINI M,CEHAJIC-KAPETANOVIC J,YUSUF I H,et al.A novel splice-site variant in CDH23 in a patient with Usher syndrome type 1[J].Ophthalmic Genet,2019,40(6):545-548.
[14] OUYANG X M,YAN D,DU L L,et al.Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population[J].Hum Genet,2005,116(4):292-299.
[15] REHMAN A U,FRIEDMAN T B,GRIFFITH A J.Unresolved questions regarding human hereditary deafness[J].Oral Dis,2017,23(5):551-558.
[16] SCHULTZ J M,BHATTI R,MADEO A C,et al.Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes[J].J Med Genet,2011,48(11):767-775.
[17] KHORRAM E,IRAVANI O,KHORRAMI M,et al.A novel biallelic variant in CDH23 gene in a family with atypical USH1D manifestation:a literature review and investigation of genotype-phenotype correlation[J].Audiol Neurootol,2023,28(4):317-326.