Mapping of DFN2 to Xq22

Human Molecular Genetics
J TysonMaria Bitner-Glindzicz

Abstract

Non-syndromic X-linked deafness is a rare form of genetic deafness accounting for a small proportion of all hereditary hearing loss. It is both clinically and genetically heterogeneous and five loci have been described to date but only two of these have been mapped. DFN2 represents a locus for congenital profound sensorineural hearing loss that has yet to be mapped. We describe a four generation family with this phenotype in which female carriers have a mild/moderate hearing loss affecting the high frequencies. The mutant gene has been mapped to Xq22 using polymorphic microsatellite markers. A maximum two point lod score of 2.91 at theta = 0 was observed with a fully informative dinucleotide repeat at COL4A5, and flanking recombinations were observed at DXS990 and DXS1001.

Citations

May 20, 1999·Clinical Genetics·N G Robertson, C C Morton
Nov 10, 2000·Journal of Medical Genetics·D M MartinE M Petty
Feb 11, 2014·Autoimmune Diseases·Senol KobakErtuğurul Ercan
Jul 9, 2004·Journal of Genetics·Bin CuiLandian Hu
Nov 30, 2012·International Journal of Audiology·Xue Zhong LiuDenise Yan
Nov 17, 2007·Clinical Genetics·M B PetersenP J Willems
Apr 27, 2005·International Journal of Pediatric Otorhinolaryngology·Josef Finsterer, Johannes Fellinger
Apr 13, 2010·American Journal of Human Genetics·Arjan P M de BrouwerJohn Duley
Sep 25, 2004·American Journal of Medical Genetics. Part a·Frank J ProbstDonna M Martin
Aug 30, 2007·American Journal of Medical Genetics. Part a·David J AmorAgnes Bankier
Mar 16, 2019·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·Alexandra A DeSmidtZhongmin Lu
Mar 4, 1998·Current Opinion in Neurology·F P Cremers

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Auditory Perception

Auditory perception is the ability to receive and interpret information attained by the ears. Here is the latest research on factors and underlying mechanisms that influence auditory perception.