Table 1.
Chromosomes and Genetic Defects Related to Moyamoya Angiopathy
| Chromosome | Genetic Defects—Factors Affecting: | ||
|---|---|---|---|
| Vascular Stenosis* | Aberrant Angiogenesis† | Vascular Stenosis and Aberrant Angiogenesis | |
| Chromosome14–6,16–37 | 1p36.22 MTHFR (677C>T, C677T/A1298C, rs9651118); 1p31.3 ROR1; 1p13.3 PSRC1 (rs599839 [A/G]); 1q42.13 OBSCN | 1p34.2 TIE1; 1p21.2 VCAM1; 1q24.2 SELE | 1p13.2 NRAS: Noonan syndrome; 1p12-p11 NOTCH2: Alagille syndrome; 1q21.3 S100A4 |
| Chromosome24,5,20,35,38,39 | 2q14.1 IL1B | 2q24.2 GCG, Oxyntomodulin (P01275) | 2p22.1 SOS1: Noonan syndrome |
| Chromosome34,21,35,36,38,40–43 | 3q21.3 ZXDC (p.P562L) | 3p26-p24.2 MYMY1 (D3S3050): von Hippel-Lindau disease, Marfan syndrome; 3p22.1 CTNNB1; 3p21.31 CAMP, antibacterial protein LL-37 (P49913); 3p21.31 UCN2, urocortin-2 (Q96RP3); 3q22.2 CEP63: Seckel syndrome; 3q23 ATR: Seckel syndrome | 3p25.2 RAF1: Noonan syndrome |
| Chromosome44,5,20,44–47 | 4q32.1 GUCY1A3 or GUCY1A1, sGCα1ß1 loss, sGCα2ß1 residual | 4q28.1 FGF2 | |
| Chromosome521,38,48–50 | 5q31.1 LEAP2, liver-expressed antimicrobial peptide 2 (Q969E1) | 5q14.3 EDIL3; 5q32 PDGFRB (rs3828610 [A/C]) | |
| Chromosome61,5,6,16,20,38,51–58 | 6p21.1 VEGFA (VEGF-634C); 6p12.3 DEFB133, beta-defensin 133 (Q30KQ1) | 6p22.1 HLA-A; 6p21.33 HLA-B; 6p21.32 HLA-DRA; 6p21.32 HLA-DRB1 (DRB1*1510, DRB1*03, DRB1*13, DRB1*1302); 6p21.32 HLA-DQA1 (DQA1*01021); 6p21.32 HLA-DQA2; 6p21.32 HLA-DQB1 (DQB1*0502, DQB1*0620, DQB1*0609); 6q25 (D6S441); 6q25.1 ULBP3 | |
| Chromosome74–6,17,35,37,59–67 | 7p21.1 HDAC9 (rs2107595); 7q11.23 ELN (rs34208922 [−/A], rs8326 [C/G]) | 7p15.3 IL6 | 7q21.11 HGF; 7q31.2 CAV1; 7q34 BRAF: Noonan syndrome; 7q36.1 NOS3 (a-4b-G haplotype) |
| Chromosome824,38,52,53,68,69 | 8p23.1 ANGPT2; 8q12.1 PENK, proenkephalin-A (143–183) (P01210); 8q23.1 ANGPT1 | 8q22.3 KLF10; 8q22.3 UBR5; 8q23 (D8S546); 8q23.2 EBAG9 | |
| Chromosome924,59,70–72 | 9q34.11 ENG | 9p21.2 TEK or TIE2 | |
| Chromosome 102,4,6,16,19,73–77 | 10q23.31 ACTA2 (R179, p.R258C/H) | 10q11.21 CXCL12 (rs501120 [A/G]) | |
| Chromosome 113–5,20,78–85 | 11p15.4 HBB: sickle cell disease; 11q22.2 MMP3 (–1171 5A/6A (rs3025058)); 11q22.2 MMP12 | 11p15.5 HRAS: Costello syndrome | |
| Chromosome 124,35,52,68,85,86 | 12p12.1 KRAS: Noonan syndrome, Costello syndrome; 12p12 (D12S1690); 12q24.13 PTPN11, hyperactive SHP-2: Noonan syndrome | ||
| Chromosome 134,42,43,87,88 | 13q12.12-q12.13 CENPJ: Seckel syndrome; 13q14.11 FOXO1, nuclear forkhead box protein O1 | ||
| Chromosome 144,18,42,43,59,70,71,89 | 14q23.2 HIF1A; 14q32.13 SERPINA1 | 14q22.1 NIN: Seckel syndrome | 14q32.33 IGHG1, immunoglobulin heavy constant gamma 1 |
| Chromosome 154,16,35,42,43,90–92 | 15q21.1 CEP152: Seckel syndrome | 15q21.3 ALDH1A2; 15q22.31 MAP2K1: Noonan syndrome; 15q25.1 CRABP1 | |
| Chromosome 166 | 16q12.2 MMP2 (MMP-2-1575GA/-1306CC) | ||
| Chromosome 172,4,6,9,19–21,37,48,53,74,93–105 | 17q11.2 NF1: Neurofibromatosis type I; 17q25.3 CENPX; 17q25.3 GPS1; 17q25.3 TIMP2 (heterozygous TIMP-2-418 (rs8179090 [G/C])) | 17q12 CCL2; 17q12 CCL5; 17q25.3 BAIAP2; 17q25.3 RNF213 (c.14576G>A, rs9916351, rs112735431, rs148731719, p.R4859K, p.R4810K); 17q25.3 RPTOR (ss161110142 [G/A]) |
17q25 (D17S939; 9-cM region between D17S785 and D17S836); 17q25.3 (D17S704; candidate interval 3.5Mb between D17S1806 and the telomere of 17q) |
| Chromosome 184,42,43 | 18q11.2 RBBP8: Seckel syndrome | ||
| Chromosome 195,9,16,17,20,74,106–114 | 19p13.3 PRTN3 | 19p13.2 ICAM1 | 19q13.2 TGFB1 (rs1800471 [C/G]) |
| Chromosome 204,6,25–34,74 | 20q11.3 SAMHD1 | 20p12.2 JAG1: Alagille syndrome; 20q13.12 MMP9 (dominant type (GG vs GA+AA) of MMP-9 Q279R (rs17576)) | |
| Chromosome 214,21,42,43,115,116 | 21q21.3 APP | 21q22.13 DSCR3: Down syndrome (trisomy 21); 21q22.3 PCNT: MOPDII, Seckel syndrome | |
| Chromosome 2220,37,108,117,118 | 22q12.2 TCN2 (rs117353193) | 22q13.1 PDGFB | |
| ChromosomeX4,6,20,119 | Xp11.3 TIMP1 | Xq28 BRCC3/MTCP1 | |
Notes: *Vascular stenosis includes intimal thickening, media attenuation, and internal elastic lamina damage. †Aberrant angiogenesis includes capillary sprouting.
Abbreviations: See Supplemental Data.