Table 2.
Mutations found in familial cases of lymphedema ordered according to amino acid position
| Gene Sample ID | Nucleotide change | Amino acid change | Protein effect | dbSNP135 | Cosegregationa | Mutation reported by |
|---|---|---|---|---|---|---|
| FLT4 | ||||||
| Family-1 | c.2554G>T | p.Gly852Cys | probably damaging | not reported | NA | – |
| Family-2 | c.2554G>T | p.Gly852Cys | probably damaging | not reported | NA | – |
| Family-3b | c.2563G>Ac | p.Ala855Thrc | probably damaging | rs121909657d | ♀♂ | Ghalamkarpour et al., 2009be |
| Family-4 | c.2569G>C | p.Gly857Arg | probably damaging | not reported | NA | Karkkainen et al., 2000 |
| Family-5 | c.2585C>T | p.Ala862Val | probably damaging | not reported | ♂ | – |
| Family-6 | c.2626G>T | p.Val876Leu | probably damaging | not reported | ♀ | – |
| Family-7 | c.2632G>A | p.Val878Met | probably damaging | rs121909654d | ♂ | Ghalamkarpour et al., 2006e |
| Family-8 | c.2647 + 2T>C | – | splice-site | not reported | NA | – |
| Family-9 | c.2797G>C | p.Gly933Arg | probably damaging | not reported | ♀ | Evans et al., 2003 |
| Family-10 | c.3104A>G | p.His1035Arg | probably damaging | rs121909653d | ♂ | Irrthum et al., 2000e |
| Family-11 | c.3121C>T | p.Arg1041Trp | probably damaging | rs121909650d | ♂ | Evans et al., 2003 |
| Family-12 | c.3121C>T | p.Arg1041Trp | probably damaging | rs121909650d | NA | Evans et al., 2003 |
| Family-13 | c.3121C>G | p.Arg1041Gly | probably damaging | not reported | NA | – |
| Family-14 | c.3257T>C | p.Ile1086Thr | probably damaging | rs121909655d | ♂ | Ghalamkarpour et al., 2006e |
| Family-15b | c.3316G>A | p.Glu1106Lys | possibly damaging | rs121909656d | ♀ | Spiegel et al., 2006e |
| Family-16 | c.3323_3325del | p.Phe1108del | in-frame deletion | not reported | ♂ | Evans et al., 2003; |
| Ghalamkarpour et al., 2006e | ||||||
| GJC2 | ||||||
| Family-17 | c.143C>T | p.Ser48Leu | probably damaging | not reported | NA | Ferrel et al., 2010 |
| FOXC2 | ||||||
| Family-18b | c.595dupc | p.His199Profs*264c | frameshift | not reported | ♀ | Finegold et al., 2001 |
| Family-19 | c.902_923dup | p.Pro309Glyfs*161 | frameshift | not reported | NA | – |
| Family-20 | c.982_983del | p.Gly328Leufs*134 | frameshift | not reported | ♂ | – |
| Family-21 | c.983dup | p.Tyr329Leufs*134 | frameshift | not reported | ♀ | – |
| Family-22 | c.1315_1316dup | p.Phe440Argfs*33 | frameshift | not reported | NA | – |
| SOX18 | ||||||
| Family-23b | c.283T>Ac | p.Trp95Argc | probably damaging | rs28936693d | ♀♂ | Irrthum et al., 2003e |
| Family-24b | c.310G>Cc | p.Ala104Proc | probably damaging | rs28936692d | ♀♂ | Irrthum et al., 2003e |
| Family-25 | c.720C>A | p.Cys240* | premature stop codon | rs74315430d | present in sibling | Irrthum et al., 2003e |
| GATA2 | ||||||
| Family-26 | c.130G>T | p.Glu44* | premature stop codon | not reported | present in sibling | – |
| CCBE1 | ||||||
| Family-27b | c.223T>Ac | p.Cys75Serc | probably damaging | rs121908250d | ♀♂ | Alders et al., 2009e |
| Family-28b | c.520T>Cc | p.Cys174Argc | probably damaging | rs121908254d | ♀♂ | Alders et al., 2009 |
| PTPN14 | ||||||
| No familial mutation found. | ||||||
a
NA = Family members not available; ♀ = mutation maternally inherited and present in other family members; ♂ = mutation paternally inherited and present in other family members; ♀♂ = consanguineous inheritance.
b
Consanguineous family.
c
Homozygous mutation.
d
Reported by dbSNP135 as probably pathogenic allele.
e
Patient published by our group.