Type II autosomal recessive cutis laxa: report of another patient and molecular studies concerning three candidate genes.
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.
Scherrer
Daniel Zanetti
DZ
Faculty of Medical Sciences, Department of Medical Genetics, State University of Campinas, Campinas, SP, Brazil.
Alexandrino
Fabiana
F
Cintra
Maria Letícia
ML
Sartorato
Edi Lúcia
EL
Steiner
Carlos Eduardo
CE
D001483:Base Sequence; D002648:Child; D003483:Cutis Laxa / Q000145:classification / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D008249:Protein-Lysine 6-Oxidase / Q000235:genetics
D017931:DNA Primers; C403672:EFEMP2 protein, human; D016326:Extracellular Matrix Proteins; C492373:FBLN5 protein, human; D008249:Protein-Lysine 6-Oxidase