Abstract
Hearing impairment (HI) is the most frequent sensory defect with wide genetic heterogeneity. Approximately 80% of genetic hearing loss is non-syndromic and 15-25% of exhibit autosomal dominant inheritance. We analysed an Italian three generation family in which non-syndromic hearing impairment is transmitted as an autosomal dominant trait. Onset of HI in all affected subjects occurred in the second decade of life, with subsequent gradual progression from moderate to profound loss. HI was bilateral and symmetrical, involving all frequencies. After exclusion of the known DFNA loci with markers from the Hereditary Hearing Loss Homepage (URL: http://dnalab-www.uia.ac.be/dnalab/hhh), a genome wide scan was carried out using 358 highly informative microsatellite markers. Significant linkage (Zmax=4.21, θ=O) was obtained with chromosome 2p 12 markers. The results were confirmed by multipoint analysis (Zmax=4.51), using the location score method. Haplotype analysis defined a 9.6 cM disease gene interval on chromosome 2 without overlap with the other identified loci. Fine mapping and identification of candidate genes are in progress.
| Original language | English |
|---|---|
| Pages (from-to) | 278-281 |
| Number of pages | 4 |
| Journal | Journal of Medical Genetics |
| Volume | 40 |
| Issue number | 4 |
| Publication status | Published - Apr 1 2003 |
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ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
Mapping of a new autosomal dominant non-syndromic hearing loss locus (DFNA43) to chromosome 2p12. / Flex, E.; Mangino, M.; Mazzoli, M.; Martini, A.; Migliosi, V.; Colosimo, A.; Mingarelli, R.; Pizzuti, A.; Dallapiccola, B.
In: Journal of Medical Genetics, Vol. 40, No. 4, 01.04.2003, p. 278-281.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Mapping of a new autosomal dominant non-syndromic hearing loss locus (DFNA43) to chromosome 2p12
AU - Flex, E.
AU - Mangino, M.
AU - Mazzoli, M.
AU - Martini, A.
AU - Migliosi, V.
AU - Colosimo, A.
AU - Mingarelli, R.
AU - Pizzuti, A.
AU - Dallapiccola, B.
PY - 2003/4/1
Y1 - 2003/4/1
N2 - Hearing impairment (HI) is the most frequent sensory defect with wide genetic heterogeneity. Approximately 80% of genetic hearing loss is non-syndromic and 15-25% of exhibit autosomal dominant inheritance. We analysed an Italian three generation family in which non-syndromic hearing impairment is transmitted as an autosomal dominant trait. Onset of HI in all affected subjects occurred in the second decade of life, with subsequent gradual progression from moderate to profound loss. HI was bilateral and symmetrical, involving all frequencies. After exclusion of the known DFNA loci with markers from the Hereditary Hearing Loss Homepage (URL: http://dnalab-www.uia.ac.be/dnalab/hhh), a genome wide scan was carried out using 358 highly informative microsatellite markers. Significant linkage (Zmax=4.21, θ=O) was obtained with chromosome 2p 12 markers. The results were confirmed by multipoint analysis (Zmax=4.51), using the location score method. Haplotype analysis defined a 9.6 cM disease gene interval on chromosome 2 without overlap with the other identified loci. Fine mapping and identification of candidate genes are in progress.
AB - Hearing impairment (HI) is the most frequent sensory defect with wide genetic heterogeneity. Approximately 80% of genetic hearing loss is non-syndromic and 15-25% of exhibit autosomal dominant inheritance. We analysed an Italian three generation family in which non-syndromic hearing impairment is transmitted as an autosomal dominant trait. Onset of HI in all affected subjects occurred in the second decade of life, with subsequent gradual progression from moderate to profound loss. HI was bilateral and symmetrical, involving all frequencies. After exclusion of the known DFNA loci with markers from the Hereditary Hearing Loss Homepage (URL: http://dnalab-www.uia.ac.be/dnalab/hhh), a genome wide scan was carried out using 358 highly informative microsatellite markers. Significant linkage (Zmax=4.21, θ=O) was obtained with chromosome 2p 12 markers. The results were confirmed by multipoint analysis (Zmax=4.51), using the location score method. Haplotype analysis defined a 9.6 cM disease gene interval on chromosome 2 without overlap with the other identified loci. Fine mapping and identification of candidate genes are in progress.
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M3 - Article
C2 - 12676899
AN - SCOPUS:0037374843
VL - 40
SP - 278
EP - 281
JO - Journal of Medical Genetics
JF - Journal of Medical Genetics
SN - 0022-2593
IS - 4
ER -