Home
Flashcards
Preview
Genetics of Connective Tissue Disorders
Home
Get App
Take Quiz
Create
Automatically remove your image background. Try it now!
https://remove-image-background.com
What is the inheritance pattern of Marfan syndrome?
Autosomal dominant
Gene involvement in Marfan syndrome
Mutation in fibrillin gene (FBN1)
What are the symptoms of Marfan syndrome? (6)
Tall stature
Flexible joints
Long limbs
Scoliosis
Mitral valve prolapse
Aortic aneurysm
What is the leading cause of premature death in Marfan syndrome?
Acute aortic dissection
Marfan syndrome is a disorder of…
The fibrous connective tissue
Osteogenesis imperfecta gene involvement
Mutations in COL1A1 or COL1A2 genes, leading to a substitution of G in the GXY motif
Osteogenesis imperfecta mode of inheritance
Autosomal dominant
What are the symptoms of osteogenesis imperfecta?
Weak bones and irregular connective tissue
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
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
________________ mutations are associated with a quantitative decrease in type I collagen
Null
________________ mutations are associated with a qualitative change in type I collagen
Dominant negative
What is the most common type of osteogenesis imperfecta?
Type I classic non-deforming
Type I OI is genes involved
COL1A1
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
____________ osteogenesis imperfecta is the most severe form among children who survive neonatal period
Type III
Type III OI genes involved
COL1A1 or COL1A2
What are the symptoms of type III OI?
Severe bone fragility
Multiple fractures at birth
Deformity of the skeleton
Kyphoscoliosis
Bowed limbs
What is the most severe form of osteogenesis imperfecta?
Type II
Type II OI genes involved
COL1A1 or COL1A2
What is epidermolysis bullosa?
Group of genetic conditions that result in blistering of skin and mucous membranes
_________________ is the simplest, most superficial form of epidermolysis bullosa
Epidermolysis bullosa simplex
What is the inheritance pattern of epidermolysis bullosa simplex?
Autosomal dominant
Genes involved in epidermolysis bullosa simplex
KRT5 and KRT14
Symptoms of epidermolysis bullosa simplex
Reduced ability of skin to resist mechanical stress
Tonofilaments are involved in what disease?
Epidermolysis bullosa simplex
What is the inheritance pattern of junctional epidermolysis bullosa?
Autosomal recessive
What are the symptoms of junctional epidermolysis bullosa?
Abnormalities of GU system
Blistering in lamina lucida
Neonatal death
Genes involved in junctional epidermolysis bullosa
LAMA3
LAMB3
LAMC2
COL17A1
(Genes encoding laminin 332 and collagen XVII)
Hemidesmosomes are involved in what disease?
Junctional epidermolysis bullosa
Anchoring fibrils (type VII collagen) are involved in what disease?
Dystrophic epidermolysis bullosa
What is the inheritance pattern of dystrophic epidermolysis bullosa?
Autosomal recessive (severe) or dominant
What are the symptoms of dystrophic epidermolysis bullosa?
Abnormalities of GU system
Genes involved in dystrophic epidermolysis bullosa
COL7A1 gene (encodes type VII collagen)
Issues attaching the epidermis to the underlying layers of skin is a characteristic of which disease?
Epidermolysis bullosa
_________________ is the most common hereditary connective tissue disorder
Ehlers-Danlos syndrome
What is Ehlers-Danlos syndrome?
Group of disorders affecting connective tissues
What is the inheritance pattern for classical Ehlers-Danlos syndrome?
Autosomal dominant
Genes involved in classical Ehlers-Danlos syndrome
COL5A1 or COL5A2 (encode type V collagen)
What are the symptoms in classical Ehlers-Danlos syndrome? (5)
Fragile skin
Easy bruising
Poor healing
Skin elasticity
Joint dislocations
__________________ is the least severe subtype of Ehlers-Danlos syndrome
Hypermobile Ehlers-Danlos syndrome
__________________ is the most common subtype of Ehlers-Danlos syndrome
Hypermobile Ehlers-Danlos syndrome
What is the inheritance pattern in hypermobile Ehlers-Danlos syndrome?
Autosomal dominant
What are the symptoms of hypermobile Ehlers-Danlos syndrome?
Joint hypermobility
Joint dislocations
Normal skin
Fatigue
Pain
What is the inheritance pattern in vascular Ehlers-Danlos syndrome?
Autosomal dominant
Genes involved in vascular Ehlers-Danlos syndrome
COL3A1 (majority) or COL1A1 (minority)
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
What is the protein affected in Ehlers-Danlos syndrome?
Collagen
What is the protein affected in osteogenesis imperfecta?
Collagen
What is the protein affected in epidermolysis bullosa simplex?
Tropofilament (keratin)
What is the protein affected in junctional epidermolysis bullosa?
Laminin 332 and collagen XVII
What is the protein affected in dystrophic epidermolysis bullosa?
Anchoring fibrils (type VII collagen)
Automatically remove your image background. Try it now!
https://remove-image-background.com
Author
stepha998
ID
343426
Card Set
Genetics of Connective Tissue Disorders
Description
ATSU
Updated
2018-11-06T05:05:25Z
Show Answers
Home
Flashcards
Preview