TABLE 2.
Mutations | Affected family | Forward primer sequence (5′–3′) | Reverse primer sequence (5′–3′) | Product length |
PAX3:c.1459C > T | WS01 | GCCCAAACCAGTCTGGGTAAAT | GCATGACCTAAAAAGCTGCGT | 471 bp |
PAX3:c.123del | WS02 | AGGACGTATGGAGCCAGTCT | GAGTCCGATGTCGAGCAGTT | 351 bp |
SOX10:c.198_262del | WS03 | TGGTCTTCCAGCCCTATCCA | CAGGCGAGCTGGGCAAG | 419 bp |
SOX10:c.529_556del | WS04 | CAGGGTCTCATTGCCATCCA | CAGGGCCTCACATCTTCCAA | 459 bp |
MITF:c.731G > A | WS05 | GCAAACACTCGTGAATGGCA | CTGAGCAACAAATGCCGGTT | 510 bp |
MITF:c.970dup | WS06 | TTCCCTTATTCCATCCACGGG | TCAGTCCCAGTTCCGAGGTT | 186 bp |
PAX3:c.959-409_1173+3402del | WS07 | GAGCGCGTAATCAGTCTGGG | GGCCACATTTAGGACATGCG | 19,658/15,633 bp* |
WS07 | AAAATGCACAGACCCTTTCAGCA | TCTGGTTTAGCAACCGCCG | 4,998/973 bp* |
*The product length of the normal allele and mutated allele is separated by the slash. Reference sequence transcript: PAX3: NM_181459.4; SOX10: NM_006941.4; and MITF: NM_000248.3.