Table 1 List of mutations of genetically confirmed HHT patients
From: HHT diagnosis by Mid-infrared spectroscopy and artificial neural network analysis
Patient (sample) number | Patient group | Mutation | Reported in ARUP data base / not reported in data base | Affected organs/clinical symptoms | Age (in years) |
|---|---|---|---|---|---|
74 | German | ALK1 Exon 9, c.1297C > T (p.P433S) | HHT data base | no information | 54 |
105 | Spanish | ALK1 Exon 8, c.1205 G > A, p.G402D | HHT data base | no information | 30 |
106 | Spanish | ALK1 Exon 8, c.1205 G > A, p.G402D | HHT data base | no information | 64 |
165 | German | ENG (c.1712delG)/(p.Arg571fr) | HHT data base | E, T | 40 |
166 | German | ENG, c.324-325InsT (Codon 109) | HHT data base | E, T, PAVM, HAVM, GI, PH | 66 |
169 | German | ALK1, p.Q292P (Exon 7) | HHT data base | E, T | 69 |
178 | German | ALK1, c926-930del, GGCCATCAGGAAAA (IVS5-8) | not reported | E, T, PAVM, GI | 69 |
182 | German | ALK1 (c.313 + 1_313 + 13delGTACGTCCAGCTG)(p.L106fsX129) | not reported | E, T | 64 |
183 | German | ALK1, c.905T > G, p. L302R | HHT data base | E, T, GI | 67 |
184 | German | ALK1, c221delG, pR74fx47 | not reported | T, GI | 80 |
199 | German | ENG, c.1015-1024delGCACCGATCC (Exon 8) | not reported | E, T, PAVM | 61 |
201 | German | ALK1, c.186-190delCCCC (Exon 3) | not reported | E, T | 81 |
202 | German | ALK1, c.570-573delCCCC (Exon 6) | not reported | E, T, HAVM, bladder | 81 |
204 | German | ENG, c.1243C-T, p.Q415X | HHT data base | E, T, PAVM | 66 |
208 | German | ALK1, c.806C-A, p.S269X | not reported | E, T | 54 |
216 | German | ALK1, c.1207C > G, p.L403V | not reported | E, T, HAVM | 60 |
223 | German | ENG, c.360G > A Intron 3 | HHT data base | E, T | 69 |
228 | German | ALK1, c.881T > G, p.L294R | not reported | E, T, PAVM | 39 |
232 | German | ALK1 gene deletion (one allele) | not reported | (E), T, PAVM | 51 |
241 | German | ALK1, c.1130C > A, p.A377E, Exon 8 | not reported | E, T, GI | 59 |
254 | German | ENG, c.1015-1024delGCACCGATCC (Exon 8) | not reported | E, T | 56 |
258 | German | ALK1, c.1048G > A, p.G350S | HHT data base | E, T, CAVM, HAVM, GI | 61 |
259 | German | ALK1, c.905T > G, p. L302R | HHT data base | E, T | 67 |
264 | German | ALK1 (c.313 + 1_313 + 13delGTACGTCCAGCTG)(p.L106fsX129) | not reported | no symptoms reported | 36 |
272 | German | ENG, c.274-277delC (Exon 3) | not reported | E, T, PAVM, HAVM | 69 |
279 | German | ALK1, c.998G > T, p.S333I (Exon 7) | HHT data base | E, T, HAVM | 74 |
280 | German | ENG, c.1686 + 1G > A (Splice Mutation) | not reported | E, T, CAVM, PAVM | 41 |
283 | German | ENG, c.324-325InsT, Codon 109 | HHT data base | E, T, PAVM | 68 |
284 | German | ALK1, c.1120 C > T, p.R374W | HHT data base | no information | 64 |
292 | German | SMAD4, c.1087T > C; p.C363R | Smad4 data base | E, T, PAVM, GI, JP | 35 |
297 | German | ENG, c.1103T > C, p.M368T | HHT data base | E, T, PAVM | 45 |
298 | German | ENG, c.1103T > C, p.M368T | HHT data base | E, T | 67 |
299 | German | ENG exon 11, c.1432-33 delAGfs | HHT data base | E, T, PAVM, PH | 71 |
301 | German | ALK1 Exon 3, c.200G > A, p.R67G | HHT data base | E, T | 65 |
304 | German | ALK1, c.998G > T, p.S333I (Exon 7) | HHT data base | E, T, HAVM | 49 |
316 | German | ENG, c.duplikation Exon2-4 | HHT data base | E, T, PAVM, GI | 57 |
317 | German | ENG, c.360 + 5G > T (IVS3 + 5G > T) | not reported | E, T, PAVM, GI | 68 |
324 | German | ENG, c.360C > A (Exon 3), p.Y120X | HHT data base | E, T | 60 |
325 | German | SMAD4, c.1157G > A, p.G386D | Smad4 data base | E, T, PAVM, JP | 39 |
326 | German | ALK1 gene deletion (one allele) | not reported | (E) | 23 |
327 | German | ALK1, c.145-146InsG (GCC49GGCC) | HHT data base | E, T, GI | 78 |
329 | German | ALK1 Exon 5, c.540-541insA | HHT data base | E, T | 39 |
330 | German | ENG Intron 3, c.361-2A > G | HHT data base | E, T, PAVM, spinal abscess, stroke | 44 |
333 | German | ALK1, Exon8, c.1231G > A, p.R411Q | HHT data base | E, T | 67 |
339 | German | ALK1, Exon 5, c.540-541insA | HHT data base | (E), T | 39 |
342 | German | ALK1 Exon 5, c.540-541insA | HHT data base | E, T | 42 |
347 | German | ALK1, Exon 7, c.788A > G, p.Asp263Gly | not reported | E, T, PH | 37 |
353 | German | ALK1 (c.1120 C > T)(p.Arg374Trp) | HHT data base | E, T | 45 |
356 | Spanish | ENG, exon 2, pF71fs | HHT data base | no information | - |
357 | Spanish | ALK1, exon 7, pH297fs | not reported | no information | - |
360 | Italian | ALK1, Exon 3, c.289_294 delCACAAC (p.H97_N98del) | HHT data base | no information | 27 |
361 | Italian | ALK1, Exon 8, c.1112 G > A (p.G371D) | not reported | no information | 66 |
362 | Italian | ENG , Exon 8, c.1097_1119 del23bp (p.D365EfsX22 | HHT data base | no information | 3 |
363 | Italian | ALK1, Exon 8, c.1231 C > T (p.R411W) | HHT data base | no information | 25 |
364 | Italian | ALK1, Exon 7, c.824 dupGGCT (p.L275LfsX118) | HHT data base | no information | 40 |
365 | Italian | ALK1, Exon 4, c.314-3 C > G (Splice Site) | HHT data base | no information | 37 |
366 | Italian | ENG, Exon 3, c.360 + 1 G > A (Splice Site) | HHT data base | no information | 65 |
367 | Italian | ALK1 , Exon 6, c.743_744 delCA (p.T248SfsX142) | not reported | no information | 63 |
368 | Italian | ALK1, Exon 7, c.809_821 delCACGCAGCTGTGG (p.270SfsX27) | HHT data base | no information | 72 |
369 | Italian | ENG , Exon 8, c.1085_1086 insA (p.T361fsX395) | not reported | no information | 68 |
370 | Italian | ALK1, Exon 7, c.853 dupC (p.L285PfsX107) | not reported | no information | 66 |
371 | Italian | ALK1, Exon 10, c.1435 C > T (p.R479X) | HHT data base | no information | 44 |
372 | Italian | ENG, Exon 3, c.360 + 1 G > A (Splice Site) | HHT data base | no information | 77 |
373 | Italian | ENG, Exon 3, c.277 C > T (p.R93X) | HHT data base | no information | 73 |
374 | Italian | ALK1, Exon 3, c.200 G > A, p.R67G | HHT data base | no information | 48 |
375 | Italian | ENG, Exon6, c.816 + 5 G > C (Splice Site) | HHT data base | no information | 38 |
376 | Italian | ALK1, Exon 8, c.1232 G > A (p.R411Q) | HHT data base | no information | 49 |
377 | Italian | ALK1, Exon 8, c.1231 C > T (p.R411W) | HHT data base | no information | 64 |
378 | Italian | ALK1, Exon 7, c.809_821 delCACGCAGCTGTGG (p.270SfsX27) | HHT data base | no information | 63 |
379 | German | ALK1, Exon 3, c.286A > G; p.N96D | HHT data base | T, PAVM | 23 |