Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype.
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.
Elahi
Elahe
E
National Institute for Genetic Engineering and Biotechnology, Tehran, Iran. elahe.elahi@acnet.ir
Kalhor
Reza
R
Banihosseini
Setareh S
SS
Torabi
Noorossadat
N
Pour-Jafari
Hamid
H
Houshmand
Massoud
M
Amini
Seyed S H
SS
Ramezani
Ahmad
A
Loeys
Bart
B
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
D016326:Extracellular Matrix Proteins; C492373:FBLN5 protein, human