Abstract
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.
Original language | English (US) |
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Pages (from-to) | 1075-1080 |
Number of pages | 6 |
Journal | American journal of human genetics |
Volume | 78 |
Issue number | 6 |
DOIs | |
State | Published - Jun 2006 |
Funding
This study was funded by National Institutes of Health grant HL073703 (to Z.U.) and by the Department of Pediatrics, Washington University. We are grateful to the patient and family members whose cooperation made this study possible.
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)