一对常染色体隐性遗传性聋夫妻的遗传学及产前诊断分析
Genetics and Prenatal Diagnosis Analysis of a Couple with Autosomal Recessive Deafness
刘向科;陆祖耀;刘丽娜;郝胜菊;惠玲;张钏;李富萍
1:甘肃省妇幼保健院
摘要关键词基金项目(Foundation):作者参考文献1 Nance WE,Lim BG,Dodson KM.Importance of congenital cytomegalovirus infections as a cause for pre-lingual hearing loss[J].J Clin Virol,2006,35(2):221-225.
2 马斌，孙小红，郝胜菊，等.甘肃地区多民族耳聋基因筛查结果分析[J].听力学及言语疾病杂志，2023,31(2):131-134.
3 Richards S,Aziz N,Bale S,et al.Standards and guidelines for the interpretation of sequence variants:a joint consensus recommendation of the american college of medical genetics and genomics and the association for molecular pathology[J].Genet Med,2015,17(5):405-424.
4 Duman D,Sirmaci A,Cengiz FB,et al.Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey[J].Genetic Testing and Molecular Biomarkers,2011,15(1-2):29-33.
5 Fattahi Z,Shearer AE,Babanejad M,et al.Screening for MYO15A gene mutations in autosomal recessive nonsyndromic,GJB2 negative Iranian deaf population[J].American Journal of Medical Genetics Part A,2012,158a(8):1857-1864.
6 Wesdorp M,Schreur V,Beynon AJ,et al.Further audiovestibular characterization of DFNB77,caused by deleterious variants in LOXHD1,and investigation into the involvement of Fuchs corneal dystrophy[J].Clin Genet,2018,94(2):221-231.
7 Minami SB,Mutai H,Namba K,et al.Clinical characteristics of a Japanese family with hearing loss accompanied by compound heterozygous variants in LOXHD1[J].Auris Nasus Larynx,2016,43(6):609-613.
8 Hu J,Barr MM.ATP-2 interacts with the PLAT domain of LOV-1 and is involved in Caenorhabditis elegans polycystin signaling[J].Mol Biol Cell,2005,16(2):458-469.
9 Aleem AM,Jankun J,Dignam JD,et al.Human platelet 12-lipoxygenase,new findings about its activity,membrane binding and low-resolution structure[J].J Mol Biol,2008,376(1):193-209.
10 Zhang C,Hao S,Liu Y,et al.A novel LOXHD1 variant in a Chinese couple with hearing loss[J].J Int Med Res,2019,47(12):6082-6090.
11 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.
12 Zheng QY,Yan D,Ouyang XM,et al.Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans[J].Hum Mol Genet,2005,14(1):103-111.