Table 2.
Families affected by 3MC syndrome, associated with mutations in the COLEC11 gene.
| Family (Number of Carriers) | Origin | Nucleotide Change | Amino Acid Change/Protein Change | References |
|---|---|---|---|---|
| F1 (2) | Tunisia | c.496T>C exon 8 |
p.Ser169Pro CRD |
Rooryck et al., 2011 [6] |
| F2 (2) | Bangaldesh | c.45delC exon 2 |
p.Phe16SerfsX 85 N-terminal Collagen-like region |
|
| F3 (2) | Afganistan | c.610G>A exon 8 |
p.Gly204Ser CRD |
|
| F4 (1) | Saudi Arabia | c.648_650delCTC exon 8 |
p.Ser217del CRD |
|
| F5 (1) | Pakistan | c.610G>A exon 8 |
p.Gly204Ser CRD |
|
| F6 (1) | Italy | c.300delT exon 6 |
p.Gly101ValfsX 113 Neck domain |
|
| F7 (1) | Italy | ex 1-3 deletion exons 1,2,3 |
Predicted: complete loss of N-terminus and partial loss of the collagen-like domains N-terminal collagen-like region |
|
| F8 (2) | Israel | c.627_628delGC Exon 8 |
p. Ala213Leufs 5 CRD |
Urquhart et al., 2016 [58] |
| F9 (2) | Pakistan | ex 8 deletion exon 8 |
Predicted: complete loss of C terminus and at least partial loss of the carbohydrate-recognition domain (CRD) |
Gardner et al., 2017 [63] |
| F10 (1) | Pakistan | c.309delT exon 4 |
p.Gly104Valfs29 Collagen-like domain |
Munye et al., 2017 [7] |
| F11 (1) | Somalia | c.G496A exon 6 |
p.Ala166Thr Neck domain |
|
| F12 (1) | United Arab Emirates | 89_98del ATGACGCCTG exon 2 |
p.Asp30Alafs68 N-terminal domain |