List of candidate genes associated with CM 1
| Country | Genes | Location | Function/effects of mutation | Region of mutation involved | Author |
|---|---|---|---|---|---|
| China | ERF | Chromosome 19 | Multiple suture = 45.45% of the cases | NM_006494.4(ERF): c.787C>T (p. Gln263Ter) | Wang et al. [51] |
| Sagittal suture closure = 20% | |||||
| Russia | MYBPC1 | Chromosome 12 (12q23.2) | Affected individuals have less severe muscle contractions and restricted growth at the base of the skull. | NM_002465.4(MYBPC1): c.517G>A (p. Asp173Asn) | Musolf et al. [30] |
| COX20 | Chromosome 1 (1q43-44) | Microcephaly, structural disorders of the brain and abnormalities of hands/feet. | NM_198076.6(COX20): c.353A>G (p. Asn118Ser) | ||
| USA | CHD 3 | Chromosome 17 | Macrocephaly and development disorder | NM_001005273.3(CHD3): c.50G>A (p. Cys17Tyr); c.70C>T (p. Arg24Trp) and c.74C>T (p. Ala25Val) | Sadler et al. [31] |
| CHD8 | Chromosome 14 | Macrocephaly and autism spectrum disorder | NM_001170629.2(CHD8): c.4414C>T (p. Arg1472Ter); c.4514 G>A (p. Trp1505Ter) and c.2907 + 1G>T | ||
| Italy | DKK1 | Chromosome 10 | Affects a pentapeptide motif (NAIKN) during binding with LRPs in WNT signaling. | NM_012242.4 (DKK1): c.121G>A (p. Ala41Thr) | Merello et al. [28] |
| Spain | COL7A1 | Chromosome 3 | Downregulated in articular cartilage and subchondral bone where osteoarthritis takes place. | NM_000094.4(COL7A1): c.3605G>A (p. Arg1202His) | Urbizu et al. [52] |
| Spain | COL6A5 | Chromosome 3 | Affects the bone mineral density | NM_001278298.2(COL6A5): c.6814G>T (p. Glu2272Ter) | Urbizu et al. [52] |
| Japan | FGFR2 | Chromosome 10 | Causes the Crouzon syndrome | NM_000141.5(FGFR2): c.1205C>G (p. Cys342Trp) and c.1021A>G (p. Tyr281Cys) | Fujisawa et al. [53] |
| USA | GDF6 | Chromosome 8 | Controls proliferation and cellular differentiation in retina and bone formation. Affects BMP signaling. | NM_001001557.4(GDF6): c.746C>A (p. Ala249Glu) | Markunas et al. [16] |
| USA | EPAS1 | Chromosome 2 | Spinal dysraphism and abnormal vertebral segmentation | NM_001430.5(EPAS1): c.1589C>T (p. Ala530Val) and c.1588G>A (p. Tyr532Cys) | Rosenblum et al. [54] |
| Italy | BMP1 | Chromosome 8 | Affects the metalloprotease domain which is important in osteogenesis. | NM_001199.4(BMP1): c.941G>A (p. Arg314His) | Merello et al. [28] |
| Italy | LRP4 | Chromosome 11 | Affects the LDL receptor class B repeat 7 which is part of third β-propeller domain | NM_002334.4(LRP4): c.2552C>G (p. Thr851Arg) | Merello et al. [28] |
| Turkish | OLFML2A | Chromosome 9 | Role in development of brain structures | rs7874348† | Avşar et al. [55] |
| SLC4A9 | Chromosome 5 | Role in fluid secretion regulation (anion exchanger, especially Cl−) | rs6860077 † |