Refinement of the locus for non-syndromic sensorineural deafness (DFN2)

Journal of Genetics
Bin CuiLandian Hu

Abstract

Non-syndromic X-linked deafness is a rare form of genetic deafness in humans accounting for a small proportion of all hereditary hearing loss. Different clinical forms of non-syndromic X-linked deafness have been described, and most of these have been mapped. Here, we report a Chinese family affected by a congenital profound sensorineural hearing loss. All phenotypes of this family are clinically compatible with non-syndromic sensorineural deafness (DFN2). A maximum two-point Lod score of 2.32 was obtained at marker DXS6797 (theta = 0.00). Recombinants define a region of 4.3 cM flanked by markers DXS6799 and GATA172D05. This region overlaps the previously reported DFN2 region by 2.0 cM.

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Citations

Sep 1, 2005·International Journal of Legal Medicine·Micaela PoetschReinhard Szibor
Nov 17, 2007·Clinical Genetics·M B PetersenP J Willems
Apr 27, 2005·International Journal of Pediatric Otorhinolaryngology·Josef Finsterer, Johannes Fellinger
Nov 30, 2012·International Journal of Audiology·Xue Zhong LiuDenise Yan
Apr 13, 2010·American Journal of Human Genetics·Arjan P M de BrouwerJohn Duley
Mar 16, 2019·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·Alexandra A DeSmidtZhongmin Lu

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