Hereditary mutations in FBLN5 (fibulin) can result in a connective tissue disorder that can affect multiple organs. Fibulin is an extracellular matrix protein, and mutations in its structure can result in changes to the microfibrillar component of elastic fibers.
Gene: FBLN5 (fibulin)
Chromosome: 14q32.1
Inheritance: autosomal dominant or autosomal recessive
Clinical features:
(1) cutis laxa
(2) onset of pulmonary emphysema during childhood
(3) peripheral pulmonary artery stenosis
(4) variable supraventricular aortic stenosis
(5) defects in conncective tissue with
(5a) inguinal hernia
(5b) diverticula of hollow organs
(5c) pyloric stenosis
(5d) vesicuoureteral reflux
Death may occur from respiratory failure.
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