Gene: [11p1/DFNB18] deafness, autosomal recessive 18;
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COM |
Jain et al. studied the linkage of autosomal recessive nonsyndromic sensorineural hearing loss segregating in a large consanguineous Indian family and found that it maps to 11p15.1-p14. They designated the new locus DFNB18. Maximum lod scores of 4.30 and 3.93 at theta = 0.0 were obtained for the polymorphic microsatellite markers D11S1888 and D11S4130. Haplotype analysis localized the gene between D11S1307 and D11S1308, spanning a distance of approximately 4 cM and encompassing the region of Usher syndrome type 1C (GEM:11p151/USH1C). Based on the linkage data, Jain et al. postulated that DFNB18 and USH1C are allelic (Jain-1997)." |
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CAG |
On other loci associated with autosomal recessive type of deafness see in GEM:13q11/GJB2." |
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REF |
PAT,LIN,COM "Jain PK &: AJHG, 61, (Suppl), A280, 1997 |
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KEY |
neu |
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CLA |
unknown, basic |
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LOC |
11 p15.1-14 |
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MIM |
MIM: 602092 |
