Pedigree, audiograms and linkage peak for a novel locus for dominant inherited nonsyndromic hearing impairment (NSHI).

<p>(A) Pedigree of a large Danish family with moderate hearing impairment, with the proband indicated with an arrow. DNA was available from all individuals except those with a four-digit ID. The presence (+) or absence (-) of the <i>CD164</i> mutation c.574C>T (p.R192*) is listed underneath each individual. The phenotype of individual (IV-21) was set to unknown (shown in grey) because of uncertainties about the origin of his hearing loss. (B) Audiograms of left and right ear of a representative affected family members (individual IV-5). Mid-frequencies are more severely affected than lower and higher frequencies termed basin shaped or cookie bite hearing loss. The age of the individual at the time of each analysis is indicated. (C) Genome-wide significant linkage to chromosome 6q15-21 was identified in an initial SNP-array analysis including 11 individuals (indicated in yellow, Fig 1A). (D) Chromatograms of the c.574C>T mutation in <i>CD164</i> exon 6 in an affected family member compared to a healthy control individual. Nomenclature refers to RefSeq NM_006016.4 (<i>CD164</i> isoform 1), with nucleotide number +1 being A of the start codon ATG.