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.
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Acknowledgements
The authors thank the family members for their participation in the study, Mehdi Ashtiani for his support, Francoise Denoyelle, Jacqueline Levilliers and Jean-Pierre Hardelin for their help in the preparation of the manuscript, and Sebastien Chardenoux for genetic linkage calculations. This work was supported by grants from Fondation pour la Recherche Medicale (ARS 2000) and European Community (QLG2-CT-1999-00988). SD is a recipient from the Pasteur Institute (Paris, Teheran).
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Delmaghani, S., Aghaie, A., Compain-Nouaille, S. et al. DFNB40, a recessive form of sensorineural hearing loss, maps to chromosome 22q11.21–12.1. Eur J Hum Genet 11, 816–818 (2003). https://doi.org/10.1038/sj.ejhg.5201045
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DOI: https://doi.org/10.1038/sj.ejhg.5201045
