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Springer Nature [academic journals on nature.com], European Journal of Human Genetics, 10(11), p. 816-818, 2003

DOI: 10.1038/sj.ejhg.5201045

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DFNB40, a recessive form of sensorineural hearing loss, maps to chromosome 22q11.21-12.1

Journal article published in 2003 by Sedigheh Delmaghani, Asadollah Aghaie ORCID, Sylvie Compain-Nouaille, Afsaneh Ataie, Arnaud Lemainque, Sirous Zeinali, Mark Lathrop, Dominique Weil, Christine Petit
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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 approximately 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.