Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas

P. Sarrión1, A. Sangorrin2, R. Urreizti1, A. Delgado3, R. Artuch2, L. Martorell2, J. Armstrong2, J. Anton2, F. Torner2, M.A. Vilaseca2, J. Nevado4, P. Lapunzina4, C.G. Asteggiano3 5 6, S. Balcells1†, D. Grinberg1†*

1Department of Genetics, Faculty of Biology, Universitat de Barcelona, CIBERER, IBUB, Spain; 2Hospital Sant Joan de Déu, CIBERER, Barcelona, Spain; 3CEMECO, Universidad Nacional de Córdoba, Córdoba, Argentina; 4INGEMM, Hospital Universitario La Paz, CIBERER, Madrid, Spain; 5Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Córdoba, Argentina; 6Facultad de Medicina, Universidad Católica de Córdoba, Córdoba, Argentina

†Co-last authors

Online Supplementary Table S1. Primers used to amplify the exons of the EXT1 and EXT2 genes
Gene / Exon / Upstream primer 5'-3' / Downstream primer 5'-3' / Amplicon length (bp) / Annealing temp. (ºC)
EXT1 / Exon 1.1* / TGGGAAACTTGGGTGATTCTT / GAATCCTCGTTTTCCAATTGATCCC / 239 / 55
Exon 1.2* / GGCTTGCAGTTTAGGGCATCGAG / TTGTTCCACAAGTGGAGACTCTG / 396 / 57
Exon 1.3* / CCAGTTGTCACCTCAGTATGTGC / AACTTCACACCTGGACCAAG / 500 / 57
Exon 2 / TGCGTAAATTCATGCACATGG / GGAGAGGTGATAATGTTAAACC / 268 / 60
Exon 3 / TGCCAGTCATTGAGTTTGTAC / GGAGATTTTGTTGGAAAGTGAA / 386 / 60
Exon 4 / CTATATGCTAGAAGCCAAATGC / CAATATATCCAAGTACAGGAATC / 372 / 60
Exon 5 / TCCATTACTCTCTCTGTCTTG / ATGCAGGGTGTTAGATGGAC / 410 / 60
Exon 6 / CCTGTCAGGACATAAGAAGC / TGAAAAGGGTGTAACGAGGC / 426 / 60
Exon 7 / TCTGCCGTTTTGTCTTGCTG / ATACACACAAGGTCACAAAGC / 450 / 60
Exon 8 / GTGAGGATGGGAGAATTGTC / AGGAATCGGGCTGATTAAAAC / 334 / 60
Exon 9 / GAATTAATGTTTCGCCACAGTC / AAACACACATTTGACACATCAG / 435 / 60
Exon 10 / CATCATCATTATCATTACCATTC / GGAGAGCTTTACATCCTTGG / 525 / 60
Exon 11 / TTGCTGCTTGCTCATTTGCC / TTTGTCATTCTGCTCATCTAAG / 420 / 60
EXT2 / Exon 4.1* / TGAGTGACAGAGTGAAACCC / CAGAGCATAGATATACACCTTG / 488 / 60
Exon 4.2* / AGCCGACAGTCCCATCCC / AAACCAACTCAAGAGCAGAAG / 425 / 60
Exon 5 / TGGGATTTCCAGGAGTTTGC / CACTTCTAAATCTTCAGGAGG / 392 / 60
Exon 6 / CCGAGATGCGTGTATAAGGC / CTTAGAAAACTTGGTAGACAGC / 496 / 60
Exon 7 / TCAAGAACTGTTCCCAAATAAG / TTGCACGAACACAAGACACC / 642 / 60
Exon 8 / AGTATTGCTTGGCGTCAACC / TAGACCAGTGTACTAACTCTC / 401 / 60
Exon 9 / AATGGAGCTGTAAGAGAACTC / ATCTAGTGGAGGAAGTAAACC / 408 / 60
Exon 10 / TGGCTTGAACAGCAGGGAG / AATTATGCTGCCCTTATCAGG / 446 / 60
Exon 11 / CACCAAGCCTGCCATGTTTG / GGCATGCTGTCTCAGAAATG / 408 / 60
Exon 12 / ACCTTTGGATTTGATGAGAGC / TAACCCACACTCTTACGCAC / 405 / 60
Exon 13 / TCTCCAGAATCCCATTATGAC / CATATTTTCTACTATGAGCGTG / 469 / 60
Exon 14 / GTCACTTGACCAAAAGCATTC / GAGCTTAAAGTTTATCTAGTCC / 417 / 60
Exon 15 / CTTGTGAGTTCTGCCGTTGG / ACAAATTGAGTGAGTAGCATTC / 471 / 60
Exon 16 / ACCTGTCAACCTTTTTAAGAAC / CCAAGATCCAAGTAGGTCAAC / 445 / 60
* Exon 1 of EXT1 and exon 4 of EXT2 were amplified in 3 and 2 fragments, respectively