New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p.
Autosomal recessive non-syndromic hearing loss (ARNSHL) is the most common form of prelingual inherited hearing impairment. A small consanguineous family with this disorder was ascertained through the Institute of Basic Medical Sciences in Madras, India. Conditions such as rubella, prematurity, drug use during pregnancy, perinatal trauma, and meningitis were eliminated by history. Audiometry was performed to confirm severe-to-profound hearing impairment in affected persons. After excluding linkage to known DFNB genes, two genomic DNA pools, one from the affected persons and the other from their non-affected siblings and the parents, were used to screen 165 polymorphic markers evenly spaced across the autosomal human genome. Two regions showing homozygosity-by-descent in the affected siblings were identified on chromosomes 3q21.3-q25.2 and 19p13.3-p13.1, identifying one (or possibly both) as the site of a novel ARNSHL gene.
Chen
A
A
Department of Otolaryngology, University of Iowa, Iowa City 52242, USA.
Wayne
S
S
Bell
A
A
Ramesh
A
A
Srisailapathy
C R
CR
Scott
D A
DA
Sheffield
V C
VC
Van Hauwe
P
P
Zbar
R I
RI
Ashley
J
J
Lovett
M
M
Van Camp
G
G
Smith
R J
RJ
D000465:Algorithms; D001299:Audiometry; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D002893:Chromosomes, Human, Pair 3; D004247:DNA / Q000097:blood; D005260:Female; D005787:Gene Frequency; D005808:Genes, Recessive; D005819:Genetic Markers; D015894:Genome, Human; D018392:Genomic Imprinting; D034381:Hearing Loss / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008126:Lod Score; D008297:Male; D009679:Nuclear Family; D010375:Pedigree; D011110:Polymorphism, Genetic; D011247:Pregnancy
D005819:Genetic Markers; D004247:DNA