TY - JOUR
T1 - Fibulin-4
T2 - A novel gene for an autosomal recessive cutis laxa syndrome
AU - Hucthagowder, Vishwanathan
AU - Sausgruber, Nina
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.
PY - 2006/6
Y1 - 2006/6
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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U2 - 10.1086/504304
DO - 10.1086/504304
M3 - Article
C2 - 16685658
AN - SCOPUS:33646896247
SN - 0002-9297
VL - 78
SP - 1075
EP - 1080
JO - American journal of human genetics
JF - American journal of human genetics
IS - 6
ER -