1. ¹National Institute for Genetic Engineering and Biotechnology, Tehran, Iran
2. ²Department of Biological Sciences, Faculty of Sciences, Tehran University, Tehran, Iran
3. ³Department of Biotechnology, Faculty of Sciences, Tehran University, Tehran, Iran
4. ⁴Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran
5. ⁵Division of Genetics, Hamadan Medical School, Hamadan, Iran
6. ⁶Gene-Fanavaran Company, Tehran, Iran
7. ⁷Division of Ophthalmology, Hamadan Medical School, Hamadan, Iran
8. ⁸Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium

Correspondence: Associate Professor Elahe Elahi, National Institute for Genetic Engineering and Biotechnology, Km17 Tehran-Karaj Freeway, Tehran 1417863171, Iran. E-mail: elahe.elahi@acnet.ir

Received 25 September 2005; Revised 17 January 2006; Accepted 19 January 2006; Published online 11 May 2006.

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.