Assessment of fibrillin-2 and elastin gene polymorphisms in patients with a traumatic Achilles tendon rupture: Is Achilles tendon rupture a genetic disease?
Autosomal dominant cutis laxa and critical stenosis of the left main coronary artery in a 21-year-old female with an intronic mutation in the elastin gene.
Susceptibility loci and polygenic architecture highlight population specific and common genetic features in inguinal hernias: genetics in inguinal hernias.
report demonstrates that the affected arteries severities and clinical course of supravalvular aortic stenosis can be variable among family members with the same ELN mutation
While monomeric tropoelastin has the intrinsic ability to self-assemble into fibrills its in vivo assembly is guided by interactions with cells and other matrix-associated components. In addition the multiplicity of reported mRNA isoforms if translated into protein variants could modulate not only interactions with these matrix-associated components but also self-assembly and functional properties. (review)
Study reports a familial case of autosomal dominant cutis laxa which includes a 33-year-old woman and her 11-year-old son from Kazakhstan who are Russian by nationality with novel heterozygous frameshift mutation c.2323delG (p.Ala775fs) in exon 34 of elastin transcript NM_001278939.1.
The majority of familial SVAS patients appear to carry ELN mutations which strongly indicates that elastin is the most important causative gene for SVAS. The frequency of intragenic deletions highlights the need for quantitative tests to analyze ELN for efficient genetic diagnosis of SVAS.
Study implies that the rs2856728 variant in elastin gene polymorphisms might play crucial roles in the development and pathogenesis of intracranial aneurysms in Korean population.
The aim was to examine if the serum concentrations of elastin-related proteins correlate to signs of cardiovascular diseases in patients with Diabetes mellitus type 2.
Here we report a second adult Williams-Beuren syndrome (WBS)patient with emphysema where the diagnosis of WBS was established subsequent to the discovery of severe bullous emphysema. Haploinsufficiency of ELN likely contributed to this pulmonary manifestation of WBS.
Direct gene sequencing of ELN confirmed the diagnosis showing a previously undescribed c.2156del (p.Gly719Glufs*36) mutation in exon 30 of ELN gene. This mutation results in a shift of the reading frame.
In this report we describe a three-generation family suffering from supravalvular aortic stenosis various other arterial stenoses sudden death and intracranial aneurysms. A frameshift mutation in exon 12 of the elastin gene not described before was detected in the affected family members.
Elastin degradation was correlated with age in COPD patients smoker controls and non-smoker controls. The correlation was weaker in the smoker control group compared with the never-smoker control or COPD group.
the study contributes to a better understanding of the correlation between genotypic and elastin-related phenotypic features of Williams-Beuren syndrome patients
We herein report the case of a Japanese female patient presenting with multiple arteriopathy including moyamoya disease a tortuosity of abdominal arteries and pulmonary hypertension due to peripheral pulmonary artery stenosis. This case suggests the possible progression of cerebral arteriopathy including moyamoya disease in patients with elastin mutations
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