Genetics of Connective Tissue Disorders

  1. What is the inheritance pattern of Marfan syndrome?
    Autosomal dominant
  2. Gene involvement in Marfan syndrome
    Mutation in fibrillin gene (FBN1)
  3. What are the symptoms of Marfan syndrome? (6)
    • Tall stature
    • Flexible joints
    • Long limbs
    • Scoliosis
    • Mitral valve prolapse
    • Aortic aneurysm
  4. What is the leading cause of premature death in Marfan syndrome?
    Acute aortic dissection
  5. Marfan syndrome is a disorder of…
    The fibrous connective tissue
  6. Osteogenesis imperfecta gene involvement
    Mutations in COL1A1 or COL1A2 genes, leading to a substitution of G in the GXY motif
  7. Osteogenesis imperfecta mode of inheritance
    Autosomal dominant
  8. What are the symptoms of osteogenesis imperfecta?
    Weak bones and irregular connective tissue
  9. What are the 5 main types of osteogenesis imperfecta in order of increasing severity?
    • Type I: classic non-deforming OI
    • Type IV: common variable OI
    • Type V: OI with calcification
    • Type III: progressively deforming OI
    • Type II: perinatally lethal
  10. What is the difference between a quantitative and a qualitative change in type I collagen?
    • Quantitative: mutated protein is not incorporated into type I collagen
    • Qualitative: mutated protein is incorporated into type I collagen
  11. ________________ mutations are associated with a quantitative decrease in type I collagen
    Null
  12. ________________ mutations are associated with a qualitative change in type I collagen
    Dominant negative
  13. What is the most common type of osteogenesis imperfecta?
    Type I classic non-deforming
  14. Type I OI is genes involved
    COL1A1
  15. What are the symptoms of type I OI?
    • Protrusion of eyes
    • Discoloration of sclera
    • Hearing loss
    • Bones fracture easily
    • Slight spinal curvature
    • Poor muscle tone
  16. ____________ osteogenesis imperfecta is the most severe form among children who survive neonatal period
    Type III
  17. Type III OI genes involved
    COL1A1 or COL1A2
  18. What are the symptoms of type III OI?
    • Severe bone fragility
    • Multiple fractures at birth
    • Deformity of the skeleton
    • Kyphoscoliosis
    • Bowed limbs
  19. What is the most severe form of osteogenesis imperfecta?
    Type II
  20. Type II OI genes involved
    COL1A1 or COL1A2
  21. What is epidermolysis bullosa?
    Group of genetic conditions that result in blistering of skin and mucous membranes
  22. _________________ is the simplest, most superficial form of epidermolysis bullosa
    Epidermolysis bullosa simplex
  23. What is the inheritance pattern of epidermolysis bullosa simplex?
    Autosomal dominant
  24. Genes involved in epidermolysis bullosa simplex
    KRT5 and KRT14
  25. Symptoms of epidermolysis bullosa simplex
    Reduced ability of skin to resist mechanical stress
  26. Tonofilaments are involved in what disease?
    Epidermolysis bullosa simplex
  27. What is the inheritance pattern of junctional epidermolysis bullosa?
    Autosomal recessive
  28. What are the symptoms of junctional epidermolysis bullosa?
    • Abnormalities of GU system
    • Blistering in lamina lucida
    • Neonatal death
  29. Genes involved in junctional epidermolysis bullosa
    • LAMA3
    • LAMB3
    • LAMC2
    • COL17A1
    • (Genes encoding laminin 332 and collagen XVII)
  30. Hemidesmosomes are involved in what disease?
    Junctional epidermolysis bullosa
  31. Anchoring fibrils (type VII collagen) are involved in what disease?
    Dystrophic epidermolysis bullosa
  32. What is the inheritance pattern of dystrophic epidermolysis bullosa?
    Autosomal recessive (severe) or dominant
  33. What are the symptoms of dystrophic epidermolysis bullosa?
    Abnormalities of GU system
  34. Genes involved in dystrophic epidermolysis bullosa
    COL7A1 gene (encodes type VII collagen)
  35. Issues attaching the epidermis to the underlying layers of skin is a characteristic of which disease?
    Epidermolysis bullosa
  36. _________________ is the most common hereditary connective tissue disorder
    • Ehlers-Danlos syndrome
    • What is Ehlers-Danlos syndrome?
    • Group of disorders affecting connective tissues
  37. What is the inheritance pattern for classical Ehlers-Danlos syndrome?
    Autosomal dominant
  38. Genes involved in classical Ehlers-Danlos syndrome
    COL5A1 or COL5A2 (encode type V collagen)
  39. What are the symptoms in classical Ehlers-Danlos syndrome? (5)
    • Fragile skin
    • Easy bruising
    • Poor healing
    • Skin elasticity
    • Joint dislocations
  40. __________________ is the least severe subtype of Ehlers-Danlos syndrome
    Hypermobile Ehlers-Danlos syndrome
  41. __________________ is the most common subtype of Ehlers-Danlos syndrome
    Hypermobile Ehlers-Danlos syndrome
  42. What is the inheritance pattern in hypermobile Ehlers-Danlos syndrome?
    Autosomal dominant
  43. What are the symptoms of hypermobile Ehlers-Danlos syndrome?
    • Joint hypermobility
    • Joint dislocations
    • Normal skin
    • Fatigue
    • Pain
  44. What is the inheritance pattern in vascular Ehlers-Danlos syndrome?
    Autosomal dominant
  45. Genes involved in vascular Ehlers-Danlos syndrome
    COL3A1 (majority) or COL1A1 (minority)
  46. What are the symptoms of vascular Ehlers-Danlos syndrome?
    • Thin, translucent skin with visible blood vessels
    • Short stature
    • Thin hair
    • Large eyes
    • No ear lobes
  47. What is the protein affected in Ehlers-Danlos syndrome?
    Collagen
  48. What is the protein affected in osteogenesis imperfecta?
    Collagen
  49. What is the protein affected in epidermolysis bullosa simplex?
    Tropofilament (keratin)
  50. What is the protein affected in junctional epidermolysis bullosa?
    Laminin 332 and collagen XVII
  51. What is the protein affected in dystrophic epidermolysis bullosa?
    Anchoring fibrils (type VII collagen)
Author
stepha998
ID
343426
Card Set
Genetics of Connective Tissue Disorders
Description
ATSU
Updated