Table 2. Genetic examination results of PURA syndrome.
| No. | cDNA | Amino acid | Monitoring method | Genetic characteristics | Cases |
|---|---|---|---|---|---|
| 1 | c.697_699del | p.Phe233del | WES | De novo | 4 |
| 2 | c.697_699del | p.Phe233del | WES (trio) | AD, de novo | 3 |
| 3 | c.812_814del | p.Phe271del | WES | AD, de novo | 3 |
| 4 | c.289A>G | p.Lys97Glu | WES | AD, de novo | 2 |
| 5 | c.734G>C | p.Arg245Pro | WES (patient + mother) | De novo | 1 |
| 6 | c.734G>C | p.Arg245Pro | WES (trio) | AD, de novo | 1 |
| 7 | c.235C>T | p.Gln79* | WES | De novo | 1 |
| 8 | c.220T>C | p.Tyr74His | WES | De novo | 1 |
| 9 | c.675_676insA | p.Val226Serfs*68 | WES | De novo | 1 |
| 10 | c.25G>T | p.Glu9* | WES | De novo | 1 |
| 11 | c.802G>T | p.Gly268* | WES | De novo | 1 |
| 12 | c.572C>T | p.Pro191Leu | WES | De novo | 1 |
| 13 | c.677_678del | p.Val226Glyfs*67 | WES (patient + mother) | De novo | 1 |
| 14 | c.338_341dupACCT | p.Gly115Profs*87 | Single gene analysis | AD, de novo | 1 |
| 15 | c.746_749dupTGAA | p.Lys250Asnfs*45 | WES (trio) | AD, de novo | 1 |
| 16 | c.158_159delGG | p.Gly53Alafs*147 | WES (trio) | AD, de novo | 1 |
| 17 | c.351dupC | p.Ile118Hisfs*83 | WES (trio) | AD, de novo | 1 |
| 18 | c.771_776del | p.Ile257_Val259delinsMet | WES (trio) | AD, de novo | 1 |
| 19 | c.340delC | p.Leu114TrpfsTer111 | WES (trio) | AD, de novo | 1 |
| 20 | c.488_489 insGCGCGGCCGCTTCCT | p.Gly165_Arg169dup | WES (trio) | AD, de novo | 1 |
| 21 | c.127-130delAGTG | p.Ser43Alafs*34 | WES | De novo | 1 |
| 22 | c.382C>T | p.Gln128* | WES | De novo | 1 |
| 23 | c.153delA | p.Leu54Cysfs*24 | WES | Unknown | 1 |
| 24 | c.616_618delATC | p.Ile206del | WES | AD, de novo | 1 |
| 25 | c.478A>T | p.Leu160* | WES | AD, de novo | 1 |
| 26 | c.711dupC | p.Asn238Glnfs*56 | WES | AD, de novo | 1 |
| 27 | c.135_138dup | p.Gly47Argfs*155 | WES | AD, de novo | 1 |
| 28 | c.808_809delAC | p.T270LfsX23 | WES | Not in mother | 1 |
| 29 | c.155delG | p.Leu54CysfsTer24 | WES (trio) | AD, de novo | 1 |
| 30 | c.685A>T | p.Lys229* | WES (trio) | AD, de novo | 1 |
| 31 | c.1A>T | p.Met1 | WES | De novo | 1 |
| 32 | c.4_8delGCGGA | p.Ala2Profs*197 | WES | De novo | 1 |
| 33 | c.307_308delTC | p.Ser103Hisfs*97 | WES | De novo | 1 |
| 34 | c.556C>T | p.Gln186* | WES | De novo | 1 |
| 35 | c.299T>C | (p.Leu100Pro) | WES | De novo | 1 |
| 36 | c.363C>G | (p.Tyr121*) | WES | De novo | 1 |
| 37 | c.783C>G | (p.Tyr261*) | WES | De novo | 1 |
| 38 | c.470T>A | (p.Met157Lys) | WES | De novo | 1 |
| 39 | c.265G>C | (p.Ala89Pro) | WES | De novo | 1 |
| 40 | c.263_265delTCG | (p.Ile88_Ala89delinsThr) | WES | De novo | 1 |
| 41 | c.596G>C | (p.Arg199Pro) | WES | De novo | 1 |
| 42 | c.302_310delCTCTCTCCA | p.Thr101_Ser103del | WES | De novo | 1 |
| 43 | c.331_342del | p.Arg111_Leu114del | WES | De novo | 1 |
| 44 | c.768dupC | p.Ile257Hisfs*37 | WES | De novo | 1 |
| 45 | c.563 T>C | p.Ile188Thr | WES | De novo | 1 |
| 46 | c.726_727delGT | p.Phe243Tyrfs*50 | WES (trio) | AD, de novo | 1 |
| 47 | C616A>T | p.Ile206Phe | WES (trio) | AD, de novo | 1 |
| 48 | c.847delG | p.Glu283Arg fs*45 | WES (trio) | AD, de novo | 1 |
| 49 | c.596G>C | p.Arg199Pro | WES | De novo | 1 |
| 50# | c.683A>G | p.Asp228Ser | WES | De novo | 1 |
| c.796A>T | p.Lys266* | WES | De novo | 1 | |
| 51 | c.593dupT | – | WES | De novo | 1 |
| 52 | c.419G>C | p.Arg140Pro | WES | De novo | 1 |
| 53 | c.502del | p.Leu168Cysfs* | WES | De novo | 1 |
| 54 | c.458G>C | p.Arg153Pro | WES | De novo | 1 |
| 55 | c.264delC | p.Ile188Metfs*137 | WES | De novo | 1 |
| 56 | c.218T>C | p.Phe73Ser | WES | De novo | 1 |
| 57 | c.382C>T | p.Gln128* | WES | De novo | 1 |
| 58 | c.745delG | p.Val249* | WES | De novo | 1 |
| 59 | c.759T | ,p.Tyr253Lys | WES | De novo | 1 |
| 60 | c.159_182dup | p.Gln55Alafs*147 | WES | De novo | 1 |
| 61 | c.7_11delGACCG | p.Asp3Argfs*196 | WES | De novo | 1 |
| 62 | chr5:139494213-139494221 GCGCGAGAA > G | p.Arg150Profs*48 | WES | De novo | 1 |
| 63 | c.367C>T | p.Gln123* | WES | De novo | 1 |
| 64 | c.159delG | p.Leu54Cysfs*24 | WES | De novo | 1 |
| 65 | c.98dupG | p.(Gly34fs) | WES | De novo | 1 |
#, this patient has two mutation sites. WES, whole exome sequencing, exon check; WES trio, three generations of the same family WES; de novo, new mutation; AD, autosomal dominant.