Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 78, Issue 6, Pages 1075-1080Publisher
CELL PRESS
DOI: 10.1086/504304
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Funding
- NHLBI NIH HHS [HL073703, R01 HL073703] Funding Source: Medline
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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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