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

Vishwanathan Hucthagowder, Nina Sausgruber, Katherine H. Kim, Brad Angle, Lihua Y. Marmorstein, Zsolt Urban*

*Corresponding author for this work

Research output: Contribution to journalArticle

183 Scopus citations

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 languageEnglish (US)
Pages (from-to)1075-1080
Number of pages6
JournalAmerican Journal of Human Genetics
Volume78
Issue number6
DOIs
StatePublished - Jun 2006

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Hucthagowder, V., Sausgruber, N., Kim, K. H., Angle, B., Marmorstein, L. Y., & Urban, Z. (2006). Fibulin-4: A novel gene for an autosomal recessive cutis laxa syndrome. American Journal of Human Genetics, 78(6), 1075-1080. https://doi.org/10.1086/504304