| H01209 | |
| H番号 | H01209 |
| 名称 | 遺伝性難聴 (X連鎖) |
| 概要 | 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. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: AB50 ICD-10: H91.9 MeSH: C564433 C536424 C564727 C564723 C564472 OMIM: 304500 304400 300066 300614 300914 301018 |
| 文献 | PMID:16446920 著者 Piatto VB, Nascimento EC, Alexandrino F, Oliveira CA, Lopes AC, Sartorato EL, Maniglia JV タイトル Molecular genetics of non-syndromic deafness. 雑誌 Braz J Otorhinolaryngol 71:216-23 (2005) DOI:10.1590/S0034-72992005000200016 PMID:20021999 (DFNX1) 著者 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 タイトル Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2. 雑誌 Am J Hum Genet 86:65-71 (2010) DOI:10.1016/j.ajhg.2009.11.015 PMID:19671658 (DFNX2) 著者 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 タイトル Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein. 雑誌 Physiol Genomics 39:195-201 (2009) DOI:10.1152/physiolgenomics.00100.2009 PMID:22911656 (DFNX4) 著者 Abdelfatah N, Merner N, Houston J, Benteau T, Griffin A, Doucette L, Stockley T, Lauzon JL, Young TL タイトル A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect. 雑誌 Hum Mutat 34:66-9 (2013) DOI:10.1002/humu.22205 PMID:25986071 (DFNX5) 著者 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 タイトル Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder. 雑誌 J Med Genet 52:523-31 (2015) DOI:10.1136/jmedgenet-2014-102961 PMID:23714752 (DFNX6) 著者 Rost S, Bach E, Neuner C, Nanda I, Dysek S, Bittner RE, Keller A, Bartsch O, Mlynski R, Haaf T, Muller CR, Kunstmann E タイトル Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6. 雑誌 Eur J Hum Genet 22:208-15 (2014) DOI:10.1038/ejhg.2013.108 PMID:28096187 (DFNX7) 著者 Xing G, Yao J, Liu C, Wei Q, Qian X, Wu L, Lu Y, Cao X タイトル GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss. 雑誌 J Med Genet 54:426-430 (2017) DOI:10.1136/jmedgenet-2016-104320 |