Condition caused by deficiency of fibrillin 1 is?
Ans. is 'a' i.e., Marfan syndrome * Marfan syndrome is an autosomal dominant disorder due to mutation in fibrillin-1 gene on chromosomal 15.About other options* EDS comprises a clinically and genetically heterogenous group of disorders that result from some defect in the synthesis or structure of collegen and characterized by hyperelasticity of skin and hypermobile joints* Osteogenesis imperfecta, also called brittle bone disease or Lobstein syndrome, is an autosomal dominant disorder due to defect in type-1 collagen* Duchenne Muscular Dystrophy (DMD) is an X-linked recessive disorder. It is caused by a mutation in gene responsible for producing dystrophin (a sarcolemmal protein).
Marfan syndrome
Ehler Danlos syndrome
Osteogenesis imperfecta
Angelman syndrome
Genetics