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© Research
Publication : European journal of human genetics : EJHG

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

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in European journal of human genetics : EJHG - 01 Oct 2003

Delmaghani S, Aghaie A, Compain-Nouaille S, Ataie A, Lemainque A, Zeinali S, Lathrop M, Weil D, Petit C

Link to Pubmed [PMID] – 14512974

Eur. J. Hum. Genet. 2003 Oct;11(10):816-8

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.

http://www.ncbi.nlm.nih.gov/pubmed/14512974