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June 2022

Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3

Author(s): Destefano, A. L., Briggs, C. E., Adair, R., Franklyn, B., Weiss, S., Korostishevsky, M., Frydman, M., Baldwin, C. T., Farrer, L. A.

Journal/Book: Am J Hum Genet. 1996; 58: 5720 S Woodlawn Ave, Chicago, IL 60637. Univ Chicago Press. 1254-1259.

Abstract: Deafness is a heterogeneous trait affecting similar to 1/1,000 newborns. Genetic linkage studies have already implicated more than a dozen distinct loci causing deafness. We conducted a genome search for linkage in a large Palestinian family segregating an autosomal recessive form of nonsyndromic deafness. Our results indicate that in this family the defective gene, DFNB10, is located in a 12-cM region near the telomere of chromosome 21. This genetic distance corresponds to <2.4 Mbp. Five marker loci typed from this region gave maximum LOD scores greater than or equal to 3. Homozygosity of marker alleles was evident for only the most telomeric marker, D21S1259, suggesting that DFNB10 is closest to this locus. To our knowledge, this is the first evidence, at this location, for a gene that is involved in the development or maintenance of hearing, As candidate genes at these and other deafness loci are isolated and characterized, their roles in hearing will be revealed and may lead to development of mechanisms to prevent deafness.

Note: Article LA Farrer, Boston Univ, Sch Med, Dept Neurol, 80 E Concord St, Boston, MA 02118 USA

Keyword(s): HEARING IMPAIRMENT; POPULATION; CHILDHOOD; ETIOLOGY; MARKERS; MAP


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