Type II autosomal recessive cutis laxa: report of another patient and molecular studies concerning three candidate genes.

Abstract

Cutis laxa is a rare disorder of connective tissue in which the skin sags excessively, giving the individual an aged appearance. In the present study we analyzed three unrelated families with type II autosomal recessive cutis laxa for mutations in three genes implicated in other forms of cutis laxa; LOX, FBLN4, and FBLN5 genes. Two individuals have been previously reported, and the third case is described in detail. No causative mutations were identified.

• Authors: Daniel Zanetti Scherrer, Fabiana Alexandrino, Maria Letícia Cintra, Edi Lúcia Sartorato, Carlos Eduardo Steiner
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 146A Issue 21 Pg. 2740-5 (Nov 01 2008) ISSN: 1552-4833 [Electronic] United States
• PMID: 18819152 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright 2008 Wiley-Liss, Inc.

Chemical References

• DNA Primers
• EFEMP2 protein, human
• Extracellular Matrix Proteins
• FBLN5 protein, human
• Protein-Lysine 6-Oxidase

Topics

• Base Sequence
• Child
• Cutis Laxa (classification, genetics, pathology)
• DNA Mutational Analysis
• DNA Primers (genetics)
• Extracellular Matrix Proteins (genetics)
• Female
• Genes, Recessive
• Heterozygote
• Homozygote
• Humans
• Infant, Newborn
• Male
• Mutation, Missense
• Phenotype
• Polymorphism, Single Nucleotide
• Protein-Lysine 6-Oxidase (genetics)