Table 1

Mutations leading to Ehlers-Danlos type VII (arthrochalasia type)

GeneMutationPositionReference
COL1A1 AG→AA3′ splice site, intron 5 12, this paper
COL1A1 G−1→A5′ splice site, intron 6 14, 15
COL1A1 Genomic deletionExon 5 to intron 6This paper
COL1A2 AG→AC3′ splice site, intron 5 13
COL1A2 AG→GG3′ splice site, intron 5 12
COL1A2 G−1→A5′ splice site, intron 6 12, 16
COL1A2 G+1→A5′ splice site, intron 6 10, 17–21
COL1A2 G+1→T5′ splice site, intron 6 12, this paper
COL1A2 T+2→C5′ splice site, intron 6 21, 22, 23
COL1A2 Genomic deletionEncompassing exon 6 12