一个非综合征型聋家系MITF基因致病性新突变
A Novel Heterozygous Missense MITF Variant Causes Human Autosomal Dominant Inheritance of Nonsyndromic Hearing Loss
高玲丽;潘春晨;鲍坚强;孙敬武;
1:中国科学技术大学生命科学与医学部附属第一医院耳鼻咽喉头颈外科
2:中国科学技术大学生命科学与医学部附属第一医院生殖医学中心
1 王秋菊,王洪阳.常染色体显性遗传性耳聋(2)[J].听力学及言语疾病杂志,2016,24(3):317-320.
2 Hereditary Hearing Loss Homepage.2020.https://www.aho.int/news-room/fact-sheets/detail/deafness-and-hearing-loss.
3 戴朴,于飞,韩冰,等.中国不同地区和种族重度感音神经性聋群体热点突变的分布和频率研究[J].中华耳鼻咽喉头颈外科杂志,2007,42(11):804-808.
4 Pingault V,Ente D,Dastot-Le MF,et al.Review and update of mutations causing Waardenburg syndrome[J].Hum Mutat,2010,31(4):391-406.
5 Zhang Z,Chen QD,Zhao LP,et al.A novel variant in MITF in a child from Yunnan-Guizhou Plateau with autosomal dominant inheritance of nonsyndromic hearing loss:a case report[J].Mol Med Rep,2018,17(4):6054-6058.
6 Thongpradit S,Jinawath N,Javed A,et al.MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance[J].Sci Rep,2020,10(1):12712-12712.
7 Cheli Y,Giuliano S,Botton T,et al.Mitf is the key molecular switch between mouse or human melanoma initiating cells and their differentiated progeny[J].Oncogene,2011,30(20):2307-2318.
8 Goding CR,Arnheiter H.MITF-the first 25 years[J].Genes Dev,2019,33(15-16):983-1007.
9 Zhang W,Dai M,Fridberger A,et al.Perivascular-resident macrophage-like melanocytes in the inner ear are essential for the integrity of the intrastrial fuid-blood barrier[J].Proc Natl Acad Sci USA,2012,109(26):10388-10393.
10 Kawakami A,Fisher DE.The master role of microphthalmia-associated transcription factor in melanocyte and melanoma biology[J].Lab Invest,2017,97(6):649-656.
11 Soura E,Eliades PJ,Shannon K,et al.Hereditary melanoma:update on syndromes and management:Emerging melanoma cancer complexes and genetic counseling[J].J Am Acad Dermatol,2016,74(3):411-420.
12 Vetrini F,Auricchio A,Du J,et al.The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene:link between melanin synthesis and melanosome biogenesis[J].Mol Cell Biol,2004,24(15):6550-6559.
13 Pogenberg V,Ogmundsdóttir MH,Bergsteinsdóttir K,et al.Restricted leucine zipper dimerization and specifcity of DNA recognition of the melanocyte master regulator MITF[J].Genes Dev,2012,26(23):2647-2658.
14 Steingrímsson E,NⅡ A,Fisher DE,et al.The semidominant Mi(b) mutation identifies a role for the HLH domain in DNA binding in addition to its role in protein dimerization[J].EMBO J,1996,15(22):6280-6289.