Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31

Hereditary nonsyndromic deafness (NSD) is extremely heterogeneous. Autosomal recessive (AR) forms account for ∼75% of genetic cases. To date, over 40 ARNSD loci have been mapped. A novel locus (DFNB46) for ARNSD was mapped to chromosome 18p11.32‐p11.31 in a five‐generation Pakistani family. A 10 cM...

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Bibliographic Details
Published in:American journal of medical genetics 2005-02, Vol.133A (1), p.23-26
Main Authors: Mir, Asif, Ansar, Muhammad, Chahrour, Maria H., Pham, Thanh L., Wajid, Muhammad, Haque, Sayedul, Yan, Kai, Ahmad, Wasim, Leal, Suzanne M.
Format: Article
Language:English
Subjects:
18p11.32-p11.31
Biological and medical sciences
Chromosome Mapping
Chromosomes, Human, Pair 18 - genetics
Deafness - genetics
Deafness - pathology
DFNB19
DFNB46
Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology
Female
General aspects. Genetic counseling
Genes, Recessive - genetics
Genetic Linkage
Genetic Predisposition to Disease - genetics
Genotype
Humans
Lod Score
Male
Medical genetics
Medical sciences
Microsatellite Repeats
Non tumoral diseases
nonsyndromic deafness
Otorhinolaryngology. Stomatology
Pakistan
Pedigree
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Summary:Hereditary nonsyndromic deafness (NSD) is extremely heterogeneous. Autosomal recessive (AR) forms account for ∼75% of genetic cases. To date, over 40 ARNSD loci have been mapped. A novel locus (DFNB46) for ARNSD was mapped to chromosome 18p11.32‐p11.31 in a five‐generation Pakistani family. A 10 cM genome‐wide scan and fine mapping was carried out using microsatellite markers. A maximum multipoint LOD score of 3.8 was obtained at two markers, D18S481 and D18S1370. The three‐unit support interval is flanked by markers D18S59 and D18S391, corresponds to a 17.6 cM region according to the deCode genetic map and spans 5.8 Mb on the sequence‐based physical map. © 2005 Wiley‐Liss, Inc.
ISSN:1552-4825
0148-7299
1552-4833
DOI:10.1002/ajmg.a.30516