AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23-27.3

doi:10.1136/jmg.2005.037929

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	AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23-27.3
	Wang, QJ; Li, QZ; Rao, SQ; Lee, K; Huang, XS; Yang, WY; Zhai, SQ; Guo, WW; Guo, YF; Yu, N
刊名	JOURNAL OF MEDICAL GENETICS
	2006-07
卷号	43 期号:7 页码:-
ISSN号	0022-2593
DOI	10.1136/jmg.2005.037929
文献子类	Article
英文摘要	Background: We report here the genetic characterisation of a large five generation Chinese family with the phenotypic features of auditory neuropathy and progressive peripheral sensory neuropathy, and the genetic feature of X linked recessive inheritance. Disease onset was at adolescence ( at an average age of 13 years for six affected subjects). The degree of hearing impairment varied from mild to severe, with decreased otoacoustic emissions; auditory brainstem responses were lacking from onset. Methods: Two-point and multipoint model based linkage analysis using the MILNK and LINKMAP programs of the FASTLINK software package produced maximum two-point and multipoint LOD scores of 2.41 and 2.41, respectively. Results: These findings define a novel X linked auditory neuropathy locus/region (AUNX1, Xq23-q27.3). This region is 42.09 cM long and contains a 28.07 Mb region with flanking markers DXS1220 and DXS8084, according to the Rutgers Combined Linkage-Physical Map, build 35. However, mutation screen of the candidate gene SLC6A14 within the region did not identify the causative genetic determinant for this large Chinese family.
学科主题	Genetics & Heredity
出版地	LONDON
语种	英语
WOS记录号	WOS:000238713800015
内容类型	期刊论文
源URL	[http://ir.lzu.edu.cn/handle/262010/125964]
专题	第二临床医学院_期刊论文
通讯作者	Shen, Y (reprint author), Chinese Natl Human Gen Ctr, 3-307,N Yongchang Rd BDA, Beijing 100176, Peoples R China.
推荐引用方式 GB/T 7714	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]. JOURNAL OF MEDICAL GENETICS,2006,43(7):-.
APA	Wang, QJ.,Li, QZ.,Rao, SQ.,Lee, K.,Huang, XS.,...&Shen, Y .(2006).AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23-27.3.JOURNAL OF MEDICAL GENETICS,43(7),-.
MLA	Wang, QJ,et al."AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23-27.3".JOURNAL OF MEDICAL GENETICS 43.7(2006):-.