| H01209 | |
| H number | H01209 |
| 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 |
| Network | - |
| 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] (DFNX7) GPRASP2 [HSA:114928] [KO:K26197] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: AB50 ICD-10: H91.9 MeSH: C564433 C536424 C564727 C564723 C564472 OMIM: 304500 304400 300066 300614 300914 301018 |
| Reference | PMID:16446920 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 PMID:20021999 (DFNX1) 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 PMID:19671658 (DFNX2) 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 PMID:22911656 (DFNX4) 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 PMID:25986071 (DFNX5) 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 PMID:23714752 (DFNX6) 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 PMID:28096187 (DFNX7) AUTHORS Xing G, Yao J, Liu C, Wei Q, Qian X, Wu L, Lu Y, Cao X TITLE GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss. JOURNAL J Med Genet 54:426-430 (2017) DOI:10.1136/jmedgenet-2016-104320 |