Table 2.
Summary of 12 HGD mutations identified in 50 Slovak families with Slovak origin (104 AKU chromosomes). Mutational hotspots are indicated. Allele frequencies in Slovakia are compared to those found in an additional 422 AKU chromosomes with mutations identified reported worldwide so far. References for all reported patients carrying specific mutation can be found in Supplementary Table 2. In the column “Where reported” the country of the first reported patient carrying relevant mutation is listed first. Numbers in brackets indicate the numbers of AKU chromosomes reported. Shaded in gray are mutations that most likely have their origin in Slovakia. The DNA numbering system is based on cDNA (NM_000187.3), with +1 corresponding to the A of the ATG. All 526 AKU chromosomes are reported in HGD mutation database (http://hgddatabase.cvtisr.sk/)
| HGD exon/intron | Short name (original description) | Nucleotide change (ATG=+1) | Protein change | Hot-spot | # of Slovak AKU chr. | % of 104 Slovak AKU chr. | # of AKU chr. in other countries | % of 422 AKU chr. from other countries | Where reported |
|---|---|---|---|---|---|---|---|---|---|
| 01i | IVS1-1G>A | c.16-1G>A | p.(Tyr6_Gln29del) | 5 | 4.8% | 7 | 1.7% | Poland, Algeria(2), Slovakia(5), Czech(2), USA(2) | |
| 03 | S47L | c.140C>T | p.(Ser47Leu) | CpG | 1 | 1.0% | 0 | 0.0% | Slovakia |
| 03 | S59fs (R58fs) | c.174_175delA | p.(Ser59AlafsX52) | 2 | 1.9% | 25 | 5.9% | Finland(2), India, Slovakia(2), Turkey(6), UAE(2), USA(11), La Reunion, UK(2) | |
| 05i | IVS5+1G>A | c.342+1G>A | p.(Leu95_Ser114del) | c.342+1 | 3 | 2.9% | 2 | 0.5% | Slovakia (3), Czech. rep, USA |
| 07 | D153fs (G152fs) | c.454_457insG | p.(Asp153GlyfsX26) | “CCC” triplet | 15 | 14.4% | 8 | 1.9% | Slovakia (15), Italy(2), USA(3), France(3) |
| 08 | G161R | c.481G>A | p.(Gly161Arg) | “CCC” triplet | 46 | 44.2% | 23 | 5.5% | Slovakia(44), Czech(4), Germany, USA(11), Slovakia/Hungary(2), Poland(2), France/Serbia, UK(4) |
| 08 | E178G | c.533A>G | p.(Glu178Gly) | 1 | 1.0% | 0 | 0% | Slovakia | |
| 10 | P230S | c.688C>T | p.(Pro230Ser) | “CCC” triplet | 5 | 4.8% | 9 | 2.1% | Spain(3), Turkey(2), Slovakia(5), USA(2), Canary Islands(2) |
| 11 | G270R | c.808G>A | p.(Gly270Arg) | “CCC” triplet, CpG | 8 | 7.7% | 10 | 2.5% | Italy(2), Slovakia(8), DomRep(2), Turkey(2), France/Armenia, USA(2), UK |
| 12 | V300G | c.899T>G | p.(Val300Gly) | 4 | 3.8% | 14 | 3.5% | France, Spain, Germany(2), Slovakia(4), Portugal(2), USA(4), La Reunion(3), UK | |
| 13 | M368V | c.1102A>G | p.(Met368Val) | 2 | 1.9% | 57 | 14.2% | Germany(9), France(4), France/Armenia, USA(28), The Netherlands, Finland(4), Portugal(4), Spain(3), Slovakia(2), Switzerland/Belgium, UK(2) | |
| 13 | H371fs (P370fs) | c.1111insC | p.(His371ProfsX4) | “CCC” triplet | 12 | 11.5% | 2 | 0.5% | Slovakia (12), USA(2) |