Literature DB >> 24758204

A novel elastin gene mutation in a Vietnamese patient with cutis laxa.

Mark L Siefring1, Elizabeth C Lawrence, Tom C Nguyen, Doanh Lu, Giang Pham, Christa Lorenchick, Kara L Levine, Zsolt Urban.   

Abstract

We report a 3-year-old girl from Vietnam with severe congenital cutis laxa; no cardiovascular, pulmonary, neurologic, or visceral involvement; and no family history of cutis laxa. Mutational analysis of the elastin gene identified heterozygosity for a previously unreported de novo c.2184delT mutation in exon 30 not present in either parent.
© 2014 Wiley Periodicals, Inc.

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Year:  2014        PMID： 24758204      PMCID： PMC4108164          DOI： 10.1111/pde.12334

Source DB:  PubMed          Journal:  Pediatr Dermatol        ISSN： 0736-8046            Impact factor:   1.588


  7 in total

Review 1.  The complexity of elastic fiber biogenesis: the paradigm of cutis laxa.

Authors:  Zsolt Urban
Journal:  J Invest Dermatol       Date:  2012-11-15       Impact factor: 8.551

Review 2.  Cutis laxa: a review.

Authors:  David R Berk; Danette D Bentley; Susan J Bayliss; Anne Lind; Zsolt Urban
Journal:  J Am Acad Dermatol       Date:  2012-03-02       Impact factor: 11.527

3.  Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene.

Authors:  Z Szabo; M W Crepeau; A L Mitchell; M J Stephan; R A Puntel; K Yin Loke; R C Kirk; Z Urban
Journal:  J Med Genet       Date:  2005-08-05       Impact factor: 6.318

4.  New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.

Authors:  Bert Callewaert; Marjolijn Renard; Vishwanathan Hucthagowder; Beate Albrecht; Ingrid Hausser; Edward Blair; Cristina Dias; Alice Albino; Hiroshi Wachi; Fumiaki Sato; Robert P Mecham; Bart Loeys; Paul J Coucke; Anne De Paepe; Zsolt Urban
Journal:  Hum Mutat       Date:  2011-03-01       Impact factor: 4.878

5.  Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN).

Authors:  M C Zhang; L He; M Giro; S L Yong; G E Tiller; J M Davidson
Journal:  J Biol Chem       Date:  1999-01-08       Impact factor: 5.157

6.  The complexity of elastic fibre biogenesis in the skin--a perspective to the clinical heterogeneity of cutis laxa.

Authors:  Jouni Uitto; Qiaoli Li; Zsolt Urban
Journal:  Exp Dermatol       Date:  2012-10-23       Impact factor: 3.960

7.  Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.

Authors:  Smail Hadj-Rabia; Bert L Callewaert; Emmanuelle Bourrat; Marlies Kempers; Astrid S Plomp; Valerie Layet; Deborah Bartholdi; Marjolijn Renard; Julie De Backer; Fransiska Malfait; Olivier M Vanakker; Paul J Coucke; Anne M De Paepe; Christine Bodemer
Journal:  Orphanet J Rare Dis       Date:  2013-02-25       Impact factor: 4.123
  7 in total
  1 in total

1.  A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report.

Authors:  E G Okuneva; A A Kozina; N V Baryshnikova; A Yu Krasnenko; K Yu Tsukanov; O I Klimchuk; E I Surkova; V V Ilinsky
Journal:  BMC Dermatol       Date:  2019-01-31
  1 in total

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