Elahi Elahe, Kalhor Reza, Banihosseini Setareh S, Torabi Noorossadat, Pour-Jafari Hamid, Houshmand Massoud, Amini Seyed S H, Ramezani Ahmad, Loeys Bart
National Institute for Genetic Engineering and Biotechnology, Tehran, Iran.
J Invest Dermatol. 2006 Jul;126(7):1506-9. doi: 10.1038/sj.jid.5700247. Epub 2006 May 11.
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.
皮肤松弛症是一组罕见的遗传性和获得性疾病，其特征为皮肤松弛、多余且弹性降低。在三个家族中，已证实弹性蛋白编码基因突变会导致常染色体显性遗传的皮肤松弛症。在一个呈现隐性遗传的土耳其家系中，发现了腓骨蛋白-5编码基因的纯合突变，并且在该疾病的一个散发病例中发现了该基因的杂合状态下的不同突变。在此，我们报告了一个隐性遗传的伊朗皮肤松弛症家系中腓骨蛋白-5编码基因突变的第三例。该突变与之前在土耳其家系中报道的相同，进一步证实其为致病原因。针对携带突变的腓骨蛋白-5等位基因，描述了一个由两个家系共有的七个基因内序列变异组成的单倍型。
