Table 2.
Results of linkage analysis and mutation screening
| Family | Samples genotyped | Linked known genes | Maximum possible LOD score | Maximum actual LOD scores | Gene with mutation | Mutation | Amino acid substitution | Novel? | Controls genotyped |
|---|---|---|---|---|---|---|---|---|---|
| 1186 | 5 | SGCA | 4.941 | 4.940 | SGCA | c.101G>A | p.R34H | No | NA |
| 1187 | 4 | FKRP | 2.533 | 2.533 | FKRP | c.941C>T | p.T314M | Yes | 379 |
| 1188 | 4 | FKRP, POMT1 | 3.135 | 3.132, 2.240 | FKRP | c.1012G>T | p.V338L | Yes | 368 |
| 1189 | 5 | FKRP | 4.038 | 4.038 | FKRP | c.941C>T | p.T314M | Yesa | (379 above) |
| 1190 | 4 | SGCD | 2.533 | 2.533 | SGCD | c.97C>T | p.R33X | Yes | NA |
| 1191 | 4 | SGCA, TCAP | 1.579 | 1.578 | SGCA | c.584+5G>A | NA | Yes | 491 |
| 1223 | 8 | SEPN1 | 1.829 | 1.828 | SEPN1 | c.467T>C | p.L156P | Yes | 375 |
| 1224 | 0 | NA | NA | NA | SGCA | c.101G>A | p.R34H | No | NA |
| 1225 | 2 | SGCG | 1.806 | 1.804 | SGCG | c.525del | p.F175LfsX20 | No | NA |
| 1226 | 1 | SGCB, SGCA, TCAP, DYSF | 1.204 | 1.204, 1.162, 0.607 | SGCB | c.541_551del | p.S181X | No | NA |
| 1227 | 0 | NA | NA | NA | FKRP | c.941C>T | p.T314M | Yesa | (379 above) |
| 1228 | 1 | SGCB, SGCG | 1.204 | 1.202, 0.662 | SGCB | c.541_551del | p.S181X | No | NA |
| 1229 | 3 | SGCB, POMT1 | 2.408 | 2.408, 1.359 | SGCB | c.541_551del | p.S181X | No | NA |
LOD scores for each family are reported only for genomic intervals containing linked known genes, and are listed in the same order as those genes. A single interval contained both SGCA and TCAP in families 1191 and 1226. All mutations were homozygous in affected individuals, heterozygous in obligate carriers, and absent from all genotyped controls. Mutations were detected in DNA; predicted mutations in protein sequence were inferred
NA not applicable
aAn additional occurrence of a novel mutation reported herein