Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1-22.3

Previously, the DFNA21 locus was positioned telomeric to the DFNA13 locus based on testing of candidate loci. One family member in this region did not carry the at risk haplotype, although he had the same nonspecific midfrequency hearing impairment as other affected family members. Hence, we perform...

Full description

Saved in:

Bibliographic Details
Published in:	American journal of medical genetics. Part A Vol. 137A; no. 1; pp. 41 - 46
Main Authors:	de Brouwer, Arjan P.M., Kunst, Hendrikus P.M., Krebsova, Alice, van Asseldonk, Karin, Reis, André, Snoeckx, Rik L., Van Camp, Guy, Cremers, Cor W.R.J., Cremers, Frans P.M., Kremer, Hannie
Format:	Journal Article
Language:	English
Published:	Hoboken Wiley Subscription Services, Inc., A Wiley Company 15-08-2005
Subjects:	Chromosome Mapping Chromosomes, Human, Pair 6 - genetics DFNA21 Family Health Female Genes, Dominant Genetic Markers Genetic Predisposition to Disease - genetics hearing impairment Hearing Loss - genetics Hearing Loss - pathology Humans Lod Score Male Pedigree
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	Previously, the DFNA21 locus was positioned telomeric to the DFNA13 locus based on testing of candidate loci. One family member in this region did not carry the at risk haplotype, although he had the same nonspecific midfrequency hearing impairment as other affected family members. Hence, we performed a whole genome linkage scan excluding other regions of the genome and confirming the localization of DFNA21 to 6p22.3‐24.1. The DFNA21 interval was determined to span 12.4 Mb (∼22 cM) and is delimited on the telomeric side by BV097155 and on the centromeric side by D6S1691. A maximum lod score of 3.51 (θ = 0.066), was calculated for marker D6S1721. The DFNA21 region does not overlap the adjacent DFNA31 and DFNA13 loci and contains 31 known genes. The coding regions and exon–intron boundaries of four candidate genes, SOX4, MYLIP, CAP2, and RPEL1, were sequenced, but no mutations were identified. © 2005 Wiley‐Liss, Inc.
Bibliography:	istex:B3444E717E81E42D3586CE5CBD15AB5E991E9FDF Heinsius Houbolt Foundation (to A.P.M. de Brouwer) ark:/67375/WNG-TT7GJNNF-Q ArticleID:AJMG30844 ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	1552-4825 1552-4833
DOI:	10.1002/ajmg.a.30844