Demographic and molecular data of control and ChAc subjects
| . | Sex . | Age, y . | Molecular defect/WB analysis for chorein . |
|---|---|---|---|
| Controls (n = 12) | 9 females/3 males | 35.6 ± 2.3 | |
| ChAc 1 | Female | 35 | Intron 3: c.188–5T > G (splice site); mutation on other allele unknown/ND |
| ChAc 2 | Female | 34 | ND/chorein absent |
| ChAc 3 | Female | 30 | Exon 37: c.4286G > C;p.A1428P; intron 55: c.7806G > A;p.P2602P (splice site)/chorein absent |
| ChAc 4 | Female | 40 | Exon 34: c.3889C > T; p.R1297X; exon 36: c.4216del; p.V1406CfsX20/ND |
| ChAc 5 | Male | 47 | Intron 22: c.2288 + 2T > C; (splice site mutation); intron 61: c.8472–1G > C; (splice site mutation)/ND |
| ChAc 6 | Female | 56 | (homozygous) Exon 13: c.1115del; p.K372SfsX2/ND |
| ChAc 7 | Male | 32 | ND/chorein absent |
| ChAc 8 | Female | 38 | Intron 6: c.495 + 5G > A (splice site mutation); exon 40: c.4903_4906del; p.K1635VfsX6/ND |
| ChAc 9 | Female | 40 | ND/chorein absent |
| . | Sex . | Age, y . | Molecular defect/WB analysis for chorein . |
|---|---|---|---|
| Controls (n = 12) | 9 females/3 males | 35.6 ± 2.3 | |
| ChAc 1 | Female | 35 | Intron 3: c.188–5T > G (splice site); mutation on other allele unknown/ND |
| ChAc 2 | Female | 34 | ND/chorein absent |
| ChAc 3 | Female | 30 | Exon 37: c.4286G > C;p.A1428P; intron 55: c.7806G > A;p.P2602P (splice site)/chorein absent |
| ChAc 4 | Female | 40 | Exon 34: c.3889C > T; p.R1297X; exon 36: c.4216del; p.V1406CfsX20/ND |
| ChAc 5 | Male | 47 | Intron 22: c.2288 + 2T > C; (splice site mutation); intron 61: c.8472–1G > C; (splice site mutation)/ND |
| ChAc 6 | Female | 56 | (homozygous) Exon 13: c.1115del; p.K372SfsX2/ND |
| ChAc 7 | Male | 32 | ND/chorein absent |
| ChAc 8 | Female | 38 | Intron 6: c.495 + 5G > A (splice site mutation); exon 40: c.4903_4906del; p.K1635VfsX6/ND |
| ChAc 9 | Female | 40 | ND/chorein absent |
WB indicates Western blot; and ND, not determined.