title: Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype.
abstract: Cutis laxa is a rare group of inherited and acquired disorders characterized by loose and redundant skin with reduced elasticity. Mutations in the elastin coding gene have been shown to cause autosomal dominant cutis laxa in three families. A homozygous mutation in the fibulin-5 coding gene was discovered in a Turkish pedigree showing recessive inheritance, and a different mutation in this gene was found in the heterozygous state in a sporadic case of the disease. Here, we report the third case of a mutation in the fibulin-5 coding gene in a recessive Iranian cutis laxa pedigree. The mutation is the same as previously reported in the Turkish pedigree, further confirming that it is causative of disease. A haplotype consisting of seven intragenic sequence variations common to both pedigrees is described for the mutation-carrying fibulin-5 allele.
authors.affiliation: National Institute for Genetic Engineering and Biotechnology, Tehran, Iran. elahe.elahi@acnet.ir
authors.forename: Elahe
authors.initials: E
authors.lastname: Elahi
authors.forename: Reza
authors.initials: R
authors.lastname: Kalhor
authors.forename: Setareh S
authors.initials: SS
authors.lastname: Banihosseini
authors.forename: Noorossadat
authors.initials: N
authors.lastname: Torabi
authors.forename: Hamid
authors.initials: H
authors.lastname: Pour-Jafari
authors.forename: Massoud
authors.initials: M
authors.lastname: Houshmand
authors.forename: Seyed S H
authors.initials: SS
authors.lastname: Amini
authors.forename: Ahmad
authors.initials: A
authors.lastname: Ramezani
authors.forename: Bart
authors.initials: B
authors.lastname: Loeys
mesh_terms: D000293:Adolescent; D003483:Cutis Laxa / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D016326:Extracellular Matrix Proteins / Q000235:genetics* / Q000502:physiology; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D008040:Genetic Linkage; D006239:Haplotypes / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007492:Iran; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D014421:Turkey
chemical_list: D016326:Extracellular Matrix Proteins; C492373:FBLN5 protein, human