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Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome

Vishwanathan Hucthagowder1, Nina Sausgruber, Katherine H Kim

  • 1Department of Pediatrics Washington University School of Medicine, St. Louis, MO 63110, USA.

American Journal of Human Genetics
|May 11, 2006
PubMed

Cutis laxa is a condition characterized by redundant, pendulous, and inelastic skin. We identified a patient with recessive inheritance of a missense mutation (169G-->A; E57K) in the Fibulin-4 gene. She had multiple bone fractures at birth and was diagnosed with cutis laxa, vascular tortuosity, ascending aortic aneurysm, developmental emphysema, inguinal and diaphragmatic hernia, joint laxity, and pectus excavatum by age 2 years. Her skin showed markedly underdeveloped elastic fibers, and the extracellular matrix laid down by her skin fibroblasts contained dramatically reduced amounts of fibulin-4. We conclude that fibulin-4 is necessary for elastic fiber formation and connective tissue development.

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