ArticleOrphanet journal of rare diseases2013
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.
Article in Orphanet journal of rare diseases, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 38 citations in OpenAlex.
- Case Report: Newly discovered ELN gene mutation in congenital heart disease: case analysis and review.Frontiers in pediatrics · 2026Article
- Pathogenicity assessment of a bicuspid aortic valve-associatedFrontiers in cardiovascular medicine · 2026Article
- The first Japanese case of autosomal dominant cutis laxa with a frameshift mutation in exon 30 of the elastin gene complicated by small airway disease with 8 years of follow-up.BMC pulmonary medicine · 2024Article
- Genomic insights in ascending aortic size and distensibility.EBioMedicine · 2022Article
- Sarcoptic mange severity is associated with reduced genomic variation and evidence of selection in Yellowstone National Park wolves (Evolutionary applications · 2021Article
- Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Homeostasis.Advances in experimental medicine and biology · 2021Review
- A Novel Splice-Site Mutation in theThe application of clinical genetics · 2020Article
- A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report.BMC dermatology · 2019Article
- Elastin-driven genetic diseases.Matrix biology : journal of the International Society for Matrix Biology · 2018Review
- Elastin, arterial mechanics, and cardiovascular disease.American journal of physiology. Heart and circulatory physiology · 2018Review
- A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema.American journal of medical genetics. Part A · 2017Article
- Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A.Neurogenetics · 2016Article
- Cutis laxa: intersection of elastic fiber biogenesis, TGFβ signaling, the secretory pathway and metabolism.Matrix biology : journal of the International Society for Matrix Biology · 2014Review
- A novel elastin gene mutation in a Vietnamese patient with cutis laxa.Pediatric dermatologyArticle
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Authors and funding
14 authors at 7 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundElastin gene mutations have been associated with a variety of phenotypes. Autosomal dominant cutis laxa (ADCL) is a rare disorder that presents with lax skin, typical facial characteristics, inguinal hernias, aortic root dilatation and pulmonary emphysema. In most patients, frameshift mutations are found in the 3' region of the elastin gene (exons 30-34) which result in a C-terminally extended protein, though exceptions have been reported.
methodsWe clinically and molecularly characterized the thus far largest cohort of ADCL patients, consisting of 19 patients from six families and one sporadic patient.
resultsMolecular analysis showed C-terminal frameshift mutations in exon 30, 32, and 34 of the elastin gene and identified a mutational hotspot in exon 32 (c.2262delA). This cohort confirms the previously reported clinical constellation of skin laxity (100%), inguinal hernias (51%), aortic root dilatation (55%) and emphysema (37%).
conclusionADCL is a clinically and molecularly homogeneous disorder, but intra- and interfamilial variability in the severity of organ involvement needs to be taken into account. Regular cardiovascular and pulmonary evaluations are imperative in the clinical follow-up of these patients.
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