Table 5.
Human diseases related to the mutations in the DNA helicase gene
| S. No. | Helicase gene | Disease | Symptoms |
|---|---|---|---|
| 1. | WRN (RECQL2) | Werner syndrome | Premature aging, scleroderma, cataract, diabetes, hypogonadism |
| 2. | BLM (RECQL3) | Bloom syndrome | Skin sensitive to UV light, dwarfism, immunodeficiency |
| 3. | XPB, XPD | Xeroderma pigmentosum | Light sensitivity, developmental, disabilities, blindness and deafness |
| 4. | XPB, XPD | Cockayne syndrome | Premature aging, light sensitivity, short statue |
| 5. | XPB, XPD | Trichothiodystrophy | Brittle hair |
| 6. | RTS (RECQL4) | Rothmund–Thomson syndrome | Malformations of bone, teeth, nails, skin atrophy |
| 7. | ATRX | X-linked α-thalassemia/mental retardation | Psychomotor retardation, genetial abnormalities, characteristic facial feature |
| 8. | ATRX | Juber–Marsidi syndrome | Mental retardation, growth failure, characteristic facies, growth failure |
| 9. | RAD54 | Various cancers | Symptoms of cancer |
| 10. | BRIP1 (BACH1) | Breast and ovarian cancer | Symptoms of cancer |
| 11. | HAGE | Tumor-specific expression | Symptoms of cancer |