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

doi:10.1086/504304

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

Pediatrics

Research output: Contribution to journal › Article › peer-review

244 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 language	English (US)
Pages (from-to)	1075-1080
Number of pages	6
Journal	American journal of human genetics
Volume	78
Issue number	6
DOIs	https://doi.org/10.1086/504304
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)

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10.1086/504304

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title = "Fibulin-4: A novel gene for an autosomal recessive cutis laxa 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.",

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AU - Kim, Katherine H.

AU - Angle, Brad

AU - Marmorstein, Lihua Y.

AU - Urban, Zsolt

N1 - Funding Information: 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.

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N2 - 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.

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

Abstract

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