Table 2.
SGV and Hereditary Diseases Demonstrating Somatic Gene Mutations or CNV (in Parts Adopted from [2] and [16])
| Locus | Disease | Gene | CNV | Gene Mutations |
|---|---|---|---|---|
| 1q21.2 | Progeria | LMNA | - | + |
| 1q44 | Chronic infantile neurologic cutaneous articular | CIAS1 | - | + |
| 2p22p21 | Hereditary spastic paraplegia | SPG4 | - | + |
| 2q24 | Myoclonic epilepsy | SCN1A | - | + |
| 2q31 | Ehlers Danlos Syndrome IV | COL3A1 | - | + |
| 3p25 | von-Hippel-Lindau Disease | VHL | + | + |
| 3q13.3q21 | Hypocalcemia | CASR | - | + |
| 3q27 | EEC | p63 | - | + |
| 4p16.3 | Skeletal disorders (syndromes) | FGFR3 | - | + |
| 4p12 | Congenital central hypoventilation | PHOX2B | - | + |
| 4q35 | Facioscapulohumeral muscular dystrophy | D4Z4* | + | ? |
| 5q13 | Infantile spinal muscular atrophy | SMN1 | - | + |
| 6p21 | Cleidocranial dysplasia | RUNX2 | - | + |
| 7q22.1 | Osteogenesis imperfecta | COL1A2 | - | + |
| 8q12.1 | CHARGE syndrome | CHD7 | ? | + |
| 9q22 | Loeys-Dietz | TGFBR2 | - | + |
| 11p15.5 | Costello syndrome | HRAS | - | + |
| 11p15.1 | Neonatal diabetes | KCNJ11 | - | + |
| 12q13 | Epidermolysis bullosa simplex | KRT5 | - | + |
| 12q24.1 | Phenylketonuria | PAH | - | + |
| 13q14 | Retinoblastoma | RB | + | + |
| 14q24.3 | Alzheimer disease, early-onset | PS1 | - | + |
| 15q21.1 | Marfan | FBN1 | - | + |
| 16p13 | Tuberous Sclerosis | TSC2 | + | + |
| 16p13 | Rubinstein-Taybi Syndrome | CREBBP | + | ? |
| 17q11 | Neurofibromatosis 1 | NF1 | + | + |
| 17q21.31 | Osteogenesis imperfecta | COL1A1 | - | + |
| 17q24 | Campomelic dysplasia | SOX9 | + | + |
| 22q11.2 | Several hereditary syndromes | MYH9 | + | + |
| Xp22.2p22.1 | X-linked hypophosphatemia | PHEX | - | + |
| Xp22.13 | X-linked mental retardation (syndromic/nonsyndromic) | ARX | - | + |
| Xp21 | Duchenne muscular dystrophy | DMD | + | + |
| Xp21 | Chronic granulomatous disease | CYBB | + | + |
| Xp21.1 | Ornithine transcarbamylase deficiency | OTC | - | + |
| Xp21.1 | Retinitis pigmentosa | RPGR | - | + |
| Xp11.3 | Retinitis pigmentosa | RP2 | - | + |
| Xq11q12 | Androgen insensitivity | AR | - | + |
| Xq26q27.2 | Lesch-Nyhan | HPRT1 | - | + |
| Xq27 | Hemophilia B | F9 | - | + |
| Xq28 | Hemophilia A | F8 | + | + |
| Xq28 | Incontinentia pigmenti | IKBKG | + | + |
| Xq28 | Mucopolysaccharidosis II | IDS | - | + |
| Xq28 | Otopalatodigital syndrome | FLNA | - | + |
| Xq28 | Rett syndrome (males and females) and a set of other neurodevelopmental diseases (syndromic/nonsyndromic) | MECP2 | + | + |
| Xq28 | X-linked dyskeratosis congenita | DKC1 | + | + |
| Xq28 | X-linked mental retardation | SLC6A8 | - | + |
*
— non-coding DNA sequences (repeats).