Table 1

Demographic and molecular data of control and ChAc subjects

SexAge, yMolecular defect/WB analysis for chorein
Controls (n = 12)9 females/3 males35.6 ± 2.3
    ChAc 1Female35Intron 3: c.188–5T > G (splice site); mutation on other allele unknown/ND
    ChAc 2Female34ND/chorein absent
    ChAc 3Female30Exon 37: c.4286G > C;p.A1428P; intron 55: c.7806G > A;p.P2602P (splice site)/chorein absent
    ChAc 4Female40Exon 34: c.3889C > T; p.R1297X; exon 36: c.4216del; p.V1406CfsX20/ND
    ChAc 5Male47Intron 22: c.2288 + 2T > C; (splice site mutation); intron 61: c.8472–1G > C; (splice site mutation)/ND
    ChAc 6Female56(homozygous) Exon 13: c.1115del; p.K372SfsX2/ND
    ChAc 7Male32ND/chorein absent
    ChAc 8Female38Intron 6: c.495 + 5G > A (splice site mutation); exon 40: c.4903_4906del; p.K1635VfsX6/ND
    ChAc 9Female40ND/chorein absent
  • WB indicates Western blot; and ND, not determined.