A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa.

A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa. Research Abstract Details 

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A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa. Abstract Text:

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.

A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa. Publishing Authors By Initials

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A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa. Journal Published:

PUBLICATION TYPE: Review

Journal: Archives of dermatology

VOLUME: 140

Page Numbers: 1135-9

Journal Abbreviation: Arch Dermatol

ISSN: 0003-987X

DAY: 17

MONTH: Sep

YEAR: 2004

A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa. Information

Number of References: 17

LANGUAGE: eng

NlmUniqueID: 372433

A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa. Keywords Mesh Terms:

KEYWORDS: Reverse Transcriptase Polymerase Chain R

MESH TERMS: genetics

Chemical & Substance for Abstract: A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa. Information

Substance Name: Elastin

Registry Number: 9007-58-3

Grant and Affiliation Information for A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa.

AFFILIATION: Genetics Service, Centre de Diagnòstic Biomèdic, and Institut d'Investigacions Biomèdiques Agustí Pi i Sunyer, Hospital Clínic, Barcelona, Spain.

Country: United States

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MEDLINETA: Arch Dermatol

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