Abstract:
:Ichthyosis prematurity syndrome (IPS) is an autosomal-recessive disorder characterized by premature birth and neonatal asphyxia, followed by a lifelong nonscaly ichthyosis with atopic manifestations. Here we show that the gene encoding the fatty acid transport protein 4 (FATP4) is mutated in individuals with IPS. Fibroblasts derived from a patient with IPS show reduced activity of very long-chain fatty acids (VLCFA)-CoA synthetase and a specific reduction in the incorporation of VLCFA into cellular lipids. The human phenotype is consistent with Fatp4 deficiency in mice that is characterized by a severe skin phenotype, a defective permeability barrier function, and perturbed VLCFA metabolism. Our results further emphasize the importance of fatty acid metabolism for normal epidermal barrier function illustrated by deficiency of a member in the FATP family of proteins.
journal_name
Am J Hum Genetjournal_title
American journal of human geneticsauthors
Klar J,Schweiger M,Zimmerman R,Zechner R,Li H,Törmä H,Vahlquist A,Bouadjar B,Dahl N,Fischer Jdoi
10.1016/j.ajhg.2009.06.021subject
Has Abstractpub_date
2009-08-01 00:00:00pages
248-53issue
2eissn
0002-9297issn
1537-6605pii
S0002-9297(09)00282-1journal_volume
85pub_type
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