Connective Tissue Disorders

Question 1

Marfan syndrome

Answer 1

FBN1; AD

tall, big ears, aortic root dilation

Question 2

EDS

Answer 2

9? types
hEDS most common but no known genes yet
Joint pain, hypermobility, easy bruising, aortic dissection risk with vascular EDS

Question 3

Alport Syndrome

Answer 3

• 80% are X-linked in COL4A5; 15% are AR and 5% AD in COL4A3 or COL4A4
• Nephritis caused by defects in collagen type IV protein, which is responsible for basement membrane formation in the kidney, ear and eye.
• Progressive renal failure, sensorineural hearing loss, eye abnormalities; persistent microhematuria in early childhood, progressive proteinuria, and anterior lenticonus in late childhood and adolescence
• 1 in 50,000 individuals

Question 4

Connective tissue disease and aortopathy genes

Answer 4

Fibrillin 1
SMADs
Collagen genes
NOTCH
TGFb

Question 5

Loeys-Dietz Syndrome

Answer 5

• TGFbeta

- Hypertelorism, bifid uvula, arterial aneurysms