Demographic and molecular data of control subjects and patients with ChAc
| . | Sex . | Age (years) . | Molecular defect . | Wb analysis for chorein . |
|---|---|---|---|---|
| Controls (n = 28) | 18 F/10 M | 45.9 ± 5.3 | ND | ND |
| ChAc 1 | F | 35 | Intron 3: c.188-5T>G (splice site); mutation on other allele unknown | ND |
| ChAc 2 | F | 34 | ND | Chorein absent |
| ChAc 3 | F | 30 | Exon 37: c.4286G>C;p.A1428P; intron 55: c.7806G>A;p.P2602P (splice site) | Chorein absent |
| ChAc 4 | F | 40 | Exon 34: c.3889C>T; p.R1297X; exon 36: c.4216del ; p.V1406CfsX20 | ND |
| ChAc 5 | M | 47 | Intron 22: c.2288+2T>C; (splice-site mut); Intron 61: c.8472-1G>C; (splice-site mut) | ND |
| ChAc 6 | F | 56 | Exon 13: c.1115del; p.K372SfsX2 (homozygous) | ND |
| ChAc 7 | M | 32 | ND | Chorein absent |
| ChAc 8 | F | 38 | Intron 6: c.495+5G>A (splice-site mut) exon 40: c.4903_4906del ; p.K1635VfsX6 | ND |
| ChAc 9 | F | 40 | ND | Chorein absent |
| ChAc 10 | M | 23 | c.6059 delC | Chorein absent |
| ChAc 11 | M | 28 | c.6059 delC | Chorein absent |
| ChAc 12 | F | 45 | c.1208_1211del, c.7867C>T | Chorein absent |
| ChAc 13 | M | 53 | c.237del, c.9429_9432del | Chorein absent |
| ChAc14 | M | 34 | Heterozygous c. early stop codon mutation | ND |
| ChAc 15 | M | 29 | deletions of exons 8 and 9 (>500 bp); deletion of exon 13 (>400 bp) | Chorein absent |
| ChAc 16 | F | 35 | c.9065_9066delAG; c.1207C>T | Chorein absent |
| . | Sex . | Age (years) . | Molecular defect . | Wb analysis for chorein . |
|---|---|---|---|---|
| Controls (n = 28) | 18 F/10 M | 45.9 ± 5.3 | ND | ND |
| ChAc 1 | F | 35 | Intron 3: c.188-5T>G (splice site); mutation on other allele unknown | ND |
| ChAc 2 | F | 34 | ND | Chorein absent |
| ChAc 3 | F | 30 | Exon 37: c.4286G>C;p.A1428P; intron 55: c.7806G>A;p.P2602P (splice site) | Chorein absent |
| ChAc 4 | F | 40 | Exon 34: c.3889C>T; p.R1297X; exon 36: c.4216del ; p.V1406CfsX20 | ND |
| ChAc 5 | M | 47 | Intron 22: c.2288+2T>C; (splice-site mut); Intron 61: c.8472-1G>C; (splice-site mut) | ND |
| ChAc 6 | F | 56 | Exon 13: c.1115del; p.K372SfsX2 (homozygous) | ND |
| ChAc 7 | M | 32 | ND | Chorein absent |
| ChAc 8 | F | 38 | Intron 6: c.495+5G>A (splice-site mut) exon 40: c.4903_4906del ; p.K1635VfsX6 | ND |
| ChAc 9 | F | 40 | ND | Chorein absent |
| ChAc 10 | M | 23 | c.6059 delC | Chorein absent |
| ChAc 11 | M | 28 | c.6059 delC | Chorein absent |
| ChAc 12 | F | 45 | c.1208_1211del, c.7867C>T | Chorein absent |
| ChAc 13 | M | 53 | c.237del, c.9429_9432del | Chorein absent |
| ChAc14 | M | 34 | Heterozygous c. early stop codon mutation | ND |
| ChAc 15 | M | 29 | deletions of exons 8 and 9 (>500 bp); deletion of exon 13 (>400 bp) | Chorein absent |
| ChAc 16 | F | 35 | c.9065_9066delAG; c.1207C>T | Chorein absent |
ChAc, chorea-acanthocytosis; F, female; M, male; ND, not determined; Wb, western blot.