Table 4

 Putative COL6 mutations for each patient

PatientFamily*Clinical phenotypePutative mutations found
α, Parent-offspring pair; β, parent-offspring pair; γ, parent-offspring pair; δ, parent-offspring pair; ε, three affected siblings.
#14Mild BM
#16αMild BM
#17αMild BM
#24Mild BM
#2Mild BM
#76Mild BM
#10Mild BM
#8Mild BMHeterozygous COL6A1 exon3 Ser116Asn
#21Mild BMHeterozygous COL6A1 exon3 Ser116Asn
#51BMHeterozygous COL6A1 exon3 Ser116Asn
#25BMHeterozygous COL6A3 exon7 Lys1014Glu
#55BMHeterozygous COL6A3 exon9 Glu1386Lys
#30BMHeterozygous COL6A3 exon10 Asn1467Asp
#75BMHeterozygous COL6A3 exon40 Ala2941Val
#74BMHeterozygous COL6A1 exon26 Lys571Thr; heterozygous COL6A3 exon14 Val1985Met
#7BMHeterozygous COL6A2 exon3 Glu106Lys
#61BMHeterozygous COL6A2 exon3 Glu106Lys
#56BMHeterozygous COL6A2 exon28 Arg853Gln
#36BMHeterozygous COL6A1 exon14 Gly341Val
#19BMHeterozygous COL6A3 exon11 Gly1679Glu
#57BM
#58BM
#59BM
#62BM
#63BM
#28βBMHeterozygous COL6A1 exon9 Pro274Leu; heterozygous COL6A3 exon15 Gly2047Asp
#29βBMHeterozygous COL6A1 exon9 Pro274Leu; heterozygous COL6A3 exon15 Gly2047Asp
#52BM
#53BM
#54BM
#32BMHeterozygous COL6A1 intron13 splice acceptor change
#71BMHeterozygous COL6A1 intron14 splice donor change
#12γBMHeterozygous COL6A1 intron14 splice donor change
#13γBMHeterozygous COL6A1 intron14 splice donor change
#77BMHeterozygous COL6A1 intron14 splice donor change
#18BMHeterozygous COL6A2 intron24 splice acceptor change
#6BMHeterozygous COL6A2 intron25 splice acceptor change
#33δBM
#34δBM
#70BMHeterozygous COL6A2 exon28 insertion leading to frameshift and PTC
#20BM
#11BM
#3εBMHeterozygous COL6A2 exon26 Gly700Ser
#4εBMHeterozygous COL6A2 exon26 Gly700Ser
#9εSevere BMHeterozygous COL6A2 exon26 Gly700Ser
#31Severe BM
#26Severe BM
#64Severe BMHeterozygous COL6A3 intron15 splice donor change
#69Severe BM
#73Severe BM
#66severe BMHeterozygous COL6A3 exon17Gly2080Asp
#43Severe BMHeterozygous COL6A1 exon10 Gly290Arg; heterozygous COL6A3 exon6 Arg677His
#5Severe BMHeterozygous COL6A1 exon10 Gly290Arg
#47UCMDHeterozygous COL6A1 exon10 Gly290Arg
#48UCMDHeterozygous COL6A1 exon10 Gly290Arg; heterozygous COL6A2 exon26 Arg784His
#45UCMDHeterozygous COL6A1 exon9 Gly281Arg; heterozygous COL6A2 exon18 Arg498His
#46UCMDHeterozygous COL6A1 exon9 Gly284Arg
#41UCMDHeterozygous COL6A1 exon9 Gly284Arg
#49UCMDHeterozygous COL6A2 exon6 Gly283Arg
#79UCMDHeterozygous COL6A3 exon8 Arg1064Glu
#15UCMD
#72UCMD
#44UCMDHomozygous COL6A2 exon26 Cys777Arg
#38UCMDHomozygous COL6A2 exon20 Gly531Arg
#65UCMDHomozygous COL6A2 exon28 Arg876Ser; heterozygous COL6A3 exon9 Arg1395Gln;
heterozygous COL6A3 exon11 Asp1674Asn
#42UCMDHomozygous COL6A1 intron27splice donor change
#22UCMDHomozygous COL6A3 exon27 change of nucleotide adjacent to splice donor
#23UCMDHeterozygous COL6A2 exon3 insertion leading to frameshift and PTC;
heterozygous COL6A2 exon27 complex insertion/deletion involving splice donor
#78UCMDHeterozygous COL6A2 exon26 Tyr 773 PTC; heterozygous COL6A2 intron26 splice acceptor change
#37UCMD
#50UCMD
#60UCMD
#67UCMDHeterozygous COL6A3 exon16 deletion involving splice acceptor
#35UCMDHeterozygous COL6A3 intron16 splice donor change
#39UCMDHeterozygous COL6A3 intron16 splice donor change
#40UCMDHeterozygous COL6A3 intron16 splice donor change
#68UCMDHeterozygous COL6A2 intron9 splice acceptor change
#27UCMD+short stature
#1UCMD+short stature