AUNX1, a novel locus responsible for X linked recessive auditory and peripheral

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J Med Genet. 2006 Jul;43(7):e33.

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, Zhao YL, Yuan H, Guan J, Leal SM, Han DY, Shen Y.

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.