title: Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1.
abstract: Approximately 80% of the hereditary hearing loss is nonsyndromic. Isolated deafness is the most genetically heterogeneous trait. We have ascertained 10 individuals from a large consanguineous Tunisian family with congenital profound autosomal recessive deafness. All affected individuals are otherwise healthy. Genotype analysis excluded linkage to known recessive deafness loci in this family. Following a genome wide screening, a linkage was detected only with locus D1S206 on chromosome 1, thereby defining a novel deafness locus, DFNB32. In order to confirm linkage and for fine mapping the genetic interval, 12 individuals belonging to this family were added and 19 microsatellite markers were tested. A maximum two-point lodscore of 4.96 was obtained at a new polymorphic marker D1S21401. Haplotype analysis defined a 16 Mb critical region between D1S2868 and afmb014zb9. The interval of DFNB32 locus overlap with DFNA37 locus and the Marshall and Stickler syndromes locus. The entire coding region of COL11A1, responsible of the later syndromes, was screened and no mutation was observed. Towards the identification of the DFNB32 gene, a search on the Human Cochlear cDNA Library and EST Database was done. The genes corresponding to the ESTs found in the DFNB32 interval are being screened for deafness-causing mutations.
authors.affiliation: Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine Sfax, Tunisie.
authors.forename: Saber
authors.initials: S
authors.lastname: Masmoudi
authors.forename: Abdelaziz
authors.initials: A
authors.lastname: Tlili
authors.forename: Marja
authors.initials: M
authors.lastname: Majava
authors.forename: Abdel Monem
authors.initials: AM
authors.lastname: Ghorbel
authors.forename: Sébastien
authors.initials: S
authors.lastname: Chardenoux
authors.forename: Arnaud
authors.initials: A
authors.lastname: Lemainque
authors.forename: Zeineb Ben
authors.initials: ZB
authors.lastname: Zina
authors.forename: Jihene
authors.initials: J
authors.lastname: Moala
authors.forename: Minna
authors.initials: M
authors.lastname: Männikkö
authors.forename: Dominique
authors.initials: D
authors.lastname: Weil
authors.forename: Mark
authors.initials: M
authors.lastname: Lathrop
authors.forename: Leena
authors.initials: L
authors.lastname: Ala-Kokko
authors.forename: Mohamed
authors.initials: M
authors.lastname: Drira
authors.forename: Christine
authors.initials: C
authors.lastname: Petit
authors.forename: Hammadi
authors.initials: H
authors.lastname: Ayadi
mesh_terms: D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D020224:Expressed Sequence Tags; D005260:Female; D005808:Genes, Recessive; D005819:Genetic Markers; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree
chemical_list: D005819:Genetic Markers