An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6.

Abstract

Autosomal recessive nonsyndromic hearing loss (ARNSHL) is the most common form of congenitally acquired inherited hearing impairment. Although numerous loci are believed to exist, only five have been identified. Using a pooled genomic DNA screening strategy, we have identified a sixth locus, DFNB6, on 3p in the interval bounded by D3SI619 and D3S1766.

A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3

“…Four other loci for inherited deafness DFNB6 (3p14-p21) [Fukushima et al, 1995], DFNB15 (3q21-q25) [Chen et al, 1997], DFNA18 (3q22) [Bonsch et al, 2001], and DFNA44 (3q28-q29) [ModamioHoybjor et al, 2003] have been previously mapped on chromosome 3. For these four loci only one gene, TMIE, has been identified for DFNB6.…”

The Presynaptic Cytomatrix Protein Bassoon: Sequence and Chromosomal Localization of the HumanBSNGene

“…PEO type 2, characterized by ptosis, progressive external ophtalmoplegia, and general muscle weakness, is an autosomal dominant trait associated with multiple deletions of mtDNA (Kaukonen et al, 1996). Also the phenotype associated with DFNB6, i.e., sensorineural hearing loss (Fukushima et al, 1995), is unlikely to result from a Bassoon pathology.…”

A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23–24.2

“…In the frame of this hypothesis, a more deleterious mutation for USH2B than for DFNB6 would be expected. However, in the single family affected with DFNB6 described so far, affected individuals suffer from profound congenital deafness, 17 whereas the reported USH2B family has the typical moderate to severe hearing loss characteristic of Usher type II syndrome. These audiometric data are more in favour of the existence of two different genes underlying USH2B and DFNB6.…”

“…8,16 During this exclusion mapping, linkage was observed with marker AFM198yf2 (locus D3S1289) which is located within the candidate interval defined for DFNB6 at 3p24. 17 Eight microsatellite markers were used to map the USH2 locus involved in Usher syndrome in family Us. Pairwise haplotypes and lod scores are shown in Figure 1.…”