Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q.
Hearing impairment is inherited most frequently as an autosomal recessive isolated clinical finding (non-syndromic hearing loss, NSHL). Extreme heterogeneity and phenotypic variability in the audiometric profile preclude pooling of affected families and severely hamper gene mapping by conventional linkage analysis. However, in instances of consanguinity, homozygosity mapping can be used to identify disease loci in small nuclear families. This report demonstrates the power of this technique by identifying a locus for recessive NSHL on 14q (DFNB4).
Department of Otolaryngology, University of Iowa, Iowa City 52242, USA.
K
K
Fukushima
A
A
Ramesh
C R
CR
Srisailapathy
L
L
Ni
A
A
Chen
M
M
O'Neill
G
G
Van Camp
P
P
Coucke
S D
SD
Smith
J B
JB
Kenyon
D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14; D003241:Consanguinity; D003638:Deafness / Q000151:congenital / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D018740:Genetic Heterogeneity; D008040:Genetic Linkage; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree