A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa.
BACKGROUND
Cutis laxa is an extremely rare disorder characterized by marked skin laxity. Few cases of cutis laxa have been described worldwide. Clinical presentation and mode of inheritance show considerable heterogeneity; autosomal dominant, autosomal recessive, and X-linked recessive forms have been reported. Only 3 mutations in the elastin gene have been described as the genetic cause of the autosomal dominant form of cutis laxa.


METHODS
A 45-year-old woman and her 19-year-old son presented with inelastic, loose-hanging, and wrinkled skin that appeared prematurely aged and were clinically diagnosed as having cutis laxa. Mutational analysis of the elastin gene evidenced a novel mutation (2292delC) that predicts a frameshift in the coding region and causes translation to proceed into the 3'-untranslated region. This would replace the C-terminal amino acid of the normal elastin protein with a novel sequence.


CONCLUSIONS
This article is the fourth report of autosomal dominant cutis laxa to appear in the literature in which a mutation in the elastin gene has been correlated with the disease.
Rodriguez-Revenga
Laia
L
Genetics Service, Centre de Diagnòstic Biomèdic, and Institut d'Investigacions Biomèdiques Agustí Pi i Sunyer, Hospital Clínic, Barcelona, Spain.
Iranzo
Pilar
P
Badenas
Cèlia
C
Puig
Susana
S
Carrió
Ana
A
Milà
Montserrat
M
D000328:Adult; D001483:Base Sequence; D003483:Cutis Laxa / Q000175:diagnosis / Q000235:genetics*; D004549:Elastin / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D016368:Frameshift Mutation; D005799:Genes, Dominant; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020133:Reverse Transcriptase Polymerase Chain Reaction
D004549:Elastin