| Title | Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. | | Author(s) | Hucthagowder V, Sausgruber N, Kim KH, Angle B, Marmorstein LY, Urban Z | | Institution | Department of Pediatrics Washington University School of Medicine, St. Louis, MO 63110, USA. | | Source | Am J Hum Genet 2006 Jun; 78(6):1075-80. | | MeSH | Abnormalities, Multiple
Adult
Amino Acid Sequence
Child, Preschool
Cutis Laxa
Extracellular Matrix Proteins
Female
Genes, Recessive
Humans
Male
Molecular Sequence Data
Mutation, Missense
Research Support, N.I.H., Extramural
Skin
Syndrome
| | 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. | | Language | eng | | Pub Type(s) | Journal Article
| | PubMed ID | 16685658 |
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