X-连锁遗传性耳聋
王秋菊;王洪阳;
1:解放军总医院耳鼻咽喉头颈外科解放军耳鼻咽喉研究所
1 Toriello HV,Reardon W,Gorlin RJ.Hereditary hearing loss and its syndromes(Second edition)[M].The United States of America:Oxford University Press,2004.1~2.
2 Cryns K,Van Camp G.Deafness genes and their diagnostic applications[J].Audiol Neurootol,2004,9:2.
3 http://hereditaryhearingloss.org/.
4 Liu X,Han D,Li J,et al.Loss-of-function mutations in the PRPS1gene cause a type of nonsyndromic X-linked sensorineural deafness,DFN2[J].Am J Hum Genet,2010,86:65.
5 Wang QJ,Li QZ,Rao SQ,et al.A Novel Mutation of POU3F4Causes Congenital Profound Sensorineural Hearing Loss in a Large Chinese Family[J].Laryngoscope,2006,116:944.
6 Wang QJ,Li QZ,Rao SQ,et al.AUNX1,a novel locus responsible for X-linked recessive auditory and peripheral neuropathy,maps to Xq23-27.3[J].J Med Genet,2006,43:1.
7 Schraders M,Haas SA,Weegerink NJD,et al.Next-generation sequencing identifies mutations of SMPX,which encodes the small muscle protein,X-linked,as a cause of progressive hearing impairment[J].Am J.Hum Genet,2011,88:628.
8 Zong L,Guan J,Ealy M,et al.Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder[J].J Med Genet,2015,52:523.
9 Rost S,Bach E,Neuner C,et al.Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6[J].Europ J Hum Genet,2014,22:208.