American journal of human genetics, 2006-06, Vol.78 (6), p.1075-1080
2006
Details
- Autor(en) / Beteiligte
- Titel
- Fibulin-4: A Novel Gene for an Autosomal Recessive Cutis Laxa Syndrome
- Ist Teil von
- American journal of human genetics, 2006-06, Vol.78 (6), p.1075-1080
- Ort / Verlag
- Chicago, IL: Elsevier Inc
- Erscheinungsjahr
- 2006
- Link zum Volltext
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- 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.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0002-9297eISSN: 1537-6605DOI: 10.1086/504304Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1474103
- Format
- –
- Schlagworte
- Abnormalities, Multiple - genetics, Adult, Amino Acid Sequence, Biological and medical sciences, Child, Preschool, Cutis Laxa - genetics, Cutis Laxa - pathology, Extracellular Matrix Proteins - genetics, Female, General aspects. Genetic counseling, Genes, Genes, Recessive, Humans, Male, Medical genetics, Medical sciences, Molecular Sequence Data, Mutation, Mutation, Missense, Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis, Skin - pathology, Skin diseases, Syndrome