A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene.
Autosomal recessive nonsyndromic sensorineural deafness segregating in a large consanguineous Indian family was mapped to chromosome 11p14-p15.1 defining a new locus, DFNB18. A maximum lod score of 4.4 at theta = 0 was obtained for the polymorphic micro-satellite marker D11S1888. Haplotype analysis localizes this gene between markers D11S1307 and D11S2368, which is approximately 1.6 cM and encompasses the region of Usher syndrome type 1C (USH1C). We postulate that DFNB18 and USH1C are allelic variants of the same gene.
Jain
P K
PK
Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850-3227, USA.
Lalwani
A K
AK
Li
X C
XC
Singleton
T L
TL
Smith
T N
TN
Chen
A
A
Deshmukh
D
D
Verma
I C
IC
Smith
R J
RJ
Wilcox
E R
ER
D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D003241:Consanguinity; D003638:Deafness / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006239:Haplotypes; D006801:Humans; D007194:India; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D013577:Syndrome