Table 1.
Families affected by the Malpuech, Michels, Mingarelli, Carnevale (3MC) syndrome, associated with mutations in MASP1/3 gene.
| Family (Number of Carriers) | Origin | Nucleotide Change | Amino acid Change/Protein Change | References |
|---|---|---|---|---|
| F1 (2) | Turkey | c.2059G>A exon 12 |
p.Gly687Arg MASP-3 SP |
Sirmaci et al., 2010 [5] |
| F2 (1) | Turkey | c.870G>A exon 6 |
p.Trp290* MASP-1/3 CUB1-EGF-CUB2-CCP1 |
|
| F3 (1) | Greece | c.1489 C>T exon 12 |
p.His497Tyr MASP-3 SP |
Rooryck et al., 2011 [6] |
| F4 (2) | Italy | c.1888T>C exon 12 |
p.Cys630Arg MASP-3 SP |
|
| F5 (1) | Brazil | c.1997G>A exon 12 |
p.Gly666Glu MASP-3 SP |
|
| F6 (1) | Brazil | c.1997G>A exon 12 |
p.Gly666Glu MASP-3 SP |
|
| F7 (1) | Turkey | c.1012-2A>G intron 7 |
Splice site mutation | Atik et al., 2015 [57] |
| F8 (1) | Turkey | c.891 +1G>T intron 6 |
Splice site mutation | |
| F9 (1) | Turkey | c.891 +1G>T intron 6 |
Splice site mutation | |
| F10 (1) | Pakistan | c.1451G>A exon 12 |
p. Gly484Glu MASP-3 SP |
|
| F11 (1) | Turkey | c.1657G>A exon 12 |
p. Asp553Asn MASP-3 SP |
|
| F12 (1) | Syria | c.1987G>T exon 12 |
p. Asp663Tyr MASP-3 SP |
|
| F13 (1) | Israel | c.1987G>T exon 12 |
p.Asp663Tyr MASP-3 SP |
Urquhart et al., 2016 [58] |
| F14 (1) | Sri Lanka | c.9G>A exon 2 |
p.Trp3* MASP-1/3 CUB1-EGF-CUB2-CCP1 |
|
| F14 (2) | Sri Lanka | c.760A>T exon 6 |
p.Leu 254* MASP-1/3 CUB1-EGF-CUB2-CCP1 |
|
| F15 (1) | India | c.547G>T exon 4 |
p.Val 183Leu MASP-1/3 CUB1-EGF-CUB2-CCP1 |
|
| F16 (1) | Germany | c.1993G>A exon 12 |
p.G665S MASP-3 SP |
Pihl et al., 2017 [59] |
| F17 (1) | Pakistan | c.9G>A exon 2 |
p. Trp3* MASP-1/3 CUB1-EGF-CUB2-CCP1 |
Munye et al., 2017 [7] |
| F18 (1) | Turkey | c.1895_*1602+411del exon 12 |
p.Arg637Cysfs*1 MASP-3 SP |
Graul-Neumann et al., 2018 [60] |
| F19 (3) | Turkey | c.2111T>G exon 12 |
p. Val704Gly MASP-1/MASP-3 CCP2 |
Basdemirci et al., 2019 [61] |
| F20 (1) | Syria | c.1987G>T exon 12 |
p.Asp663Tyr MASP-3 SP |
Çakmaklı et al., 2019 [62] |