Table 3.
Loci for autosomal recessive HL in 13 Pakistani families.
Family ID | Chromosomal Band | Region of Autozygosity Identified by Linkage Analysis (hg19) | Length (Mb) | LOD | Causal Gene in Locus | Gene Coordinates (hg19) |
---|---|---|---|---|---|---|
Family 1 | 11p12-q13.4 | 39,536,493–73,025,971 | 33.5 | 2.529 | FGF3 | chr11:69,624,736–69,634,192 |
Family 2 | 11q13.1-q13.3 | 63,870,810–69,964,525 | 6.1 | 3.73 | FGF3 | chr11:69,624,736–69,634,192 |
Family 3 * | 13q12.11-q14.11 | 22,661,666–41,063,028 | 18.4 | 1.927 | ||
Family 4 | 11q13.3-q14.3 | 69,063,393–88,489,081 | 19.4 | 2.529 | MYO7A | chr11:76,839,310–76,926,284 |
Family 5 | 11q13.5-q14.1 | 76,792,431–80,457,784 | 3.7 | 1.927 | MYO7A | chr11:76,839,310–76,926,284 |
Family 6 | 1p22.2-p21.2 | 88,430,037–102,069,696 | 13.6 | 1.927 | CDC14A | chr1:100,810,598–100,985,833 |
Family 7 | 13q22.1-q31.3 | 74,995,660–90,925,494 | 15.9 | 1.2 | SLITRK6 | chr13:86,366,925–86,373,554 |
Family 8 | No interval close to MYO7A | |||||
Family 9 | 10q21.2-q22.3 | 64,059,261–78,005,230 | 13.9 | 3.006 | CDH23 | chr10:73,156,691–73,575,702 |
Family 10 | 13q11-q12.11 | 19,121,950–22,395,049 | 3.3 | 2.529 | GJB2 | chr13:20,761,609–20,767,037 |
Family 11 | 13q11-q12.12 | 19,121,950–23,534,670 | 4.4 | 2.529 | GJB2 | chr13:20,761,609–20,767,037 |
Family 12 | 17p12-p11.2 | 13,801,016–21,539,613 | 7.7 | 2.529 | MYO15A | chr17:18,012,020–18,083,116 |
Family 13 | 10q21.2-q23.31 | 61,998,060–91,002,927 | 29.0 | 1.2 | CDH23 | chr10:73,156,691–73,575,702 |
Abbreviations: LOD, logarithm of the odds. * Family 3 revealed a homozygous interval outside but near the GJB2 gene locus.