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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
  1. AVM arterio-venous malformation, E epistaxis every two weeks or more or daily episodes; (E), on average epistaxis once a month or less; T telangiectases (lips, oral cavity, fingers and nose), CAVM cerebral AVM, HAVM hepatic AVM, PAVM pulmonary AVM, GI gastro intestinal telangiectases, PH pulmonary hypertension.