DISEASE: Deafness, X-linked
Hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms. Non-syndromic forms are responsible for 70% of the cases of hereditary etiology and syndromic cases represent 30% of them. Among the forms of heritage, autosomal-recessive inheritance is the most frequent one (75%-85%), followed by autosomal-dominant inheritance (12-13%) and X-linked or mitochondrial, with 2-3% of the cases of non-syndromic hearing loss. X-linked deafness is clinically and genetically heterogeneous disorder. PRPS1 and POU3F4 have been identified as the genes to be implicated in X-linked non-syndromic hearing loss.
Nervous system disease
Human diseases [BR:
Nervous system diseases
H01209 Deafness, X-linked
Human diseases in ICD-11 classification [BR:
10 Diseases of the ear or mastoid process
Disorders with hearing impairment
AB50 Congenital hearing impairment
H01209 Deafness, X-linked
(DFNX1) PRPS1 [HSA:
(DFNX2) POU3F4 [HSA:
(DFNX4) SMPX [HSA:
(DFNX5) AIFM1 [HSA:
(DFNX6) COL4A6 [HSA:
Piatto VB, Nascimento EC, Alexandrino F, Oliveira CA, Lopes AC, Sartorato EL, Maniglia JV
Molecular genetics of non-syndromic deafness.
Braz J Otorhinolaryngol 71:216-23 (2005)
Liu X, Han D, Li J, Han B, Ouyang X, Cheng J, Li X, Jin Z, Wang Y, Bitner-Glindzicz M, Kong X, Xu H, Kantardzhieva A, Eavey RD, Seidman CE, Seidman JG, Du LL, Chen ZY, Dai P, Teng M, Yan D, Yuan H
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.
Am J Hum Genet 86:65-71 (2010)
Lee HK, Song MH, Kang M, Lee JT, Kong KA, Choi SJ, Lee KY, Venselaar H, Vriend G, Lee WS, Park HJ, Kwon TK, Bok J, Kim UK
Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein.
Physiol Genomics 39:195-201 (2009)
Abdelfatah N, Merner N, Houston J, Benteau T, Griffin A, Doucette L, Stockley T, Lauzon JL, Young TL
A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect.
Hum Mutat 34:66-9 (2013)
Zong L, Guan J, Ealy M, Zhang Q, Wang D, Wang H, Zhao Y, Shen Z, Campbell CA, Wang F, Yang J, Sun W, Lan L, Ding D, Xie L, Qi Y, Lou X, Huang X, Shi Q, Chang S, Xiong W, Yin Z, Yu N, Zhao H, Wang J, Wang J, Salvi RJ, Petit C, Smith RJ, Wang Q
Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder.
J Med Genet 52:523-31 (2015)
Rost S, Bach E, Neuner C, Nanda I, Dysek S, Bittner RE, Keller A, Bartsch O, Mlynski R, Haaf T, Muller CR, Kunstmann E
Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.
Eur J Hum Genet 22:208-15 (2014)
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