Table 1 Mendelian causative genes identified by the microarrays-based candidate gene strategy
Gene | Locus | Size (kb) | Syndrome/phenotype | Year | Reference |
|---|---|---|---|---|---|
RAI1 | 17p11.2 | 4000 | Smith–Magenis syndrome | 2003 | Nat Genet.2003; 33:466-8. |
CHD7 | 8q12 | 2300 | CHARGE syndrome | 2004 | Nat Genet. 2004; 36:955-7. |
EHMT1 | 9q34 | 1200 | 9q34 deletion syndrome | 2005 | J Med Genet. 2005; 42:299-306. |
MECP2 | Xq28 | 400–800 | Intellectual Disability | 2005 | Am J Hum Genet. 2005; 77:442-53. |
MAPT | 17q21.31 | 600 | 17q21.31 microdeletion syndrome | 2006 | Nat Genet. 2006; 38:999-1001. |
CHRNA7 | 15q13.3 | 1500 | 15q13.3 microdeletion syndrome | 2008 | Nat Genet. 2008; 40:322-8. |
MBD5 | 2q23.1 | 200–4000 | 2q23.1 microdeletion syndrome | 2010 | Eur J Hum Genet. 2010; 18: 436-441. |
NFIX | 19p13.2 | 100–200 | Sotos-like syndrome | 2010 | Am J Hum Genet. 2010; 87:189-98. |
SHANK3 | 22q13.3 | 100–9000 | Phelan-McDermid Syndrome | 2011 | Nature. 2011; 472: 437-42. |
KANSL1 | 17q21.31 | 68 | 17q21.31 microdeletion syndrome | 2012 | Nat Genet. 2012; 44:639-41. |
ARIDIB | 6q25 | 2500 | Intellectual Disability | 2012 | Am J Hum Genet. 2012; 90:565-72 |
KCTD13 | 16p11.2 | 600 | Intellectual Disability | 2012 | Nature. 2012; 485:363-7. |
TGFB2 | 1q41 | 6500 | Thoracic aortic aneurysm | 2012 | Nat Genet. 2012; 44:922-7. |
KDM6A | Xp11.3 | 45–816 | Kabuki syndrome | 2012 | Am J Hum Genet. 2012; 90:119-24. |