This Article  • Full text  • PDF  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Citing articles on ISI (10)  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Topic Collections  • Dermatologic Disorders  • Dermatologic Disorders, Other  • Genetics  • Genetic Counseling/ Testing/ Therapy  • Alert me on articles by topic  Social Bookmarking   What's this?

Laia Rodriguez-Revenga, BS; Pilar Iranzo, MD, PhD; Cèlia Badenas, PhD; Susana Puig, MD, PhD; Ana Carrió, PhD; Montserrat Milà, PhD

Arch Dermatol. 2004;140:1135-1139.

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.

Observations  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.

Conclusion  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.

From the Genetics Service, Centre de Diagnòstic Biomèdic (Ms Rodriguez-Revenga and Drs Badenas, Carrió, and Milà), Dermatology Service (Drs Iranzo and Puig), and Institut d'Investigacions Biomèdiques Agustí Pi i Sunyer (Ms Rodriguez-Revenga and Drs Badenas, Carrió, and Milà), Hospital Clínic, Barcelona, Spain. The authors have no relevant financial interest in this article.

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati     What's this?

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival
Hucthagowder et al.
Hum Mol Genet 2009;18:2149-2165.
ABSTRACT | FULL TEXT  

Analysis of Exonic Elastin Variants in Severe, Early-Onset Chronic Obstructive Pulmonary Disease
Cho et al.
Am. J. Respir. Cell Mol. Bio. 2009;40:751-755.
ABSTRACT | FULL TEXT  

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type
Van Maldergem et al.
Neurology 2008;71:1602-1608.
ABSTRACT | FULL TEXT  

Elastin protein levels are a vital modifier affecting normal lung development and susceptibility to emphysema
Shifren et al.
Am. J. Physiol. Lung Cell. Mol. Physiol. 2007;292:L778-L787.
ABSTRACT | FULL TEXT  

Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene
Szabo et al.
J. Med. Genet. 2006;43:255-258.
ABSTRACT | FULL TEXT