KEGG   DISEASE: Deafness, X-linked
Entry
H01209                      Disease                                

Name
Deafness, X-linked
Description
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.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Ear disease
   H01209  Deafness, X-linked
Human diseases in ICD-11 classification [BR:br08403]
 10 Diseases of the ear or mastoid process
  Disorders with hearing impairment
   AB50  Congenital hearing impairment
    H01209  Deafness, X-linked
Related
pathway
hsa04510 Focal adhesion   
hsa04512 ECM-receptor interaction   
Gene
(DFNX1) PRPS1 [HSA:5631] [KO:K00948]
(DFNX2) POU3F4 [HSA:5456] [KO:K09365]
(DFNX4) SMPX [HSA:23676] [KO:K24209]
(DFNX5) AIFM1 [HSA:9131] [KO:K04727]
(DFNX6) COL4A6 [HSA:1288] [KO:K06237]
Other DBs
ICD-11: AB50
ICD-10: H91.9
MeSH: C564433 C536424 C564727 C564723 C564472
OMIM: 304500 304400 300066 300614 300914
Reference
  Authors
Piatto VB, Nascimento EC, Alexandrino F, Oliveira CA, Lopes AC, Sartorato EL, Maniglia JV
  Title
Molecular genetics of non-syndromic deafness.
  Journal
Braz J Otorhinolaryngol 71:216-23 (2005)
DOI:10.1590/S0034-72992005000200016
Reference
  Authors
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
  Title
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.
  Journal
Am J Hum Genet 86:65-71 (2010)
DOI:10.1016/j.ajhg.2009.11.015
Reference
  Authors
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
  Title
Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein.
  Journal
Physiol Genomics 39:195-201 (2009)
DOI:10.1152/physiolgenomics.00100.2009
Reference
  Authors
Abdelfatah N, Merner N, Houston J, Benteau T, Griffin A, Doucette L, Stockley T, Lauzon JL, Young TL
  Title
A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect.
  Journal
Hum Mutat 34:66-9 (2013)
DOI:10.1002/humu.22205
Reference
  Authors
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
  Title
Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder.
  Journal
J Med Genet 52:523-31 (2015)
DOI:10.1136/jmedgenet-2014-102961
Reference
  Authors
Rost S, Bach E, Neuner C, Nanda I, Dysek S, Bittner RE, Keller A, Bartsch O, Mlynski R, Haaf T, Muller CR, Kunstmann E
  Title
Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.
  Journal
Eur J Hum Genet 22:208-15 (2014)
DOI:10.1038/ejhg.2013.108
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