Short Report
European Journal of Human Genetics (2003) 11, 816–818. doi:10.1038/sj.ejhg.5201045
DFNB40, a recessive form of sensorineural hearing loss, maps to chromosome 22q11.21–12.1
Sedigheh Delmaghani1, Asadollah Aghaie2, Sylvie Compain-Nouaille1, Afsaneh Ataie3, Arnaud Lemainque4, Sirous Zeinali5, Mark Lathrop4, Dominique Weil1 and Christine Petit1
- 1Unité de Génétique des Déficits Sensoriels, INSERM U587, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris cedex 15, France
- 2Unité de Génétique des Mammifères, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris cedex 15, France
- 3Audiometry Clinic, Specialised Education Center, Isfahan, Iran
- 4Centre National de Génotypage, 2 rue Gaston Crémieux, 91057 Evry cedex, France
- 5Department of Biotechnology, Pasteur Institute of Iran, 69 Pasteur avenue, Teheran, Iran
Correspondence: C Petit, Unité de Génétique des Déficits Sensoriels, INSERM U587, Institut Pasteur, 25, rue du Dr Roux 75724 Paris Cedex 15, France. Tel: 33 1 4568 8890; Fax: 33 1 4567 6978; E-mail: cpetit@pasteur.fr
Received 14 February 2003; Revised 28 April 2003; Accepted 7 May 2003.
Abstract
We report on a novel localization for a recessive form of deafness (DFNB), by linkage analysis in an Iranian consanguineous family. Affected individuals suffer from prelingual profound sensorineural hearing loss. Genome-wide analysis led to the characterization of a new locus, DFNB40, which maps to an 
9 Mb interval between markers D22S427 and D22S1144 at chromosome 22q11.21–12.1. Maximum lod score of 3.09 was obtained with D22S1174. Since the Bronx waltzer (bv) mouse mutant, characterized by waltzing behavior, deafness, and degeneration of cochlear inner hair cells, has been mapped to the syntenic region on murine chromosome 5, we suggest that DFNB40 and bv may result from orthologous gene defects.
Keywords:
human deafness, gene localization, chromosome 22
