Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice

Fokstuen, Siv; Munoz, Analia; Melacini, Paola; Iliceto, Sabino; Perrot, Andreas; Özcelik, C.; Jeanrenaud, Xavier; Rieubland, Claudine; Farr, Martin; Faber, Lothar; Sigwart, Ulrich; Mach, François; Lerch, René; Antonarakis, Stylianos E.; Blouin, Jean‐Louis

doi:10.1136/jmg.2010.083345

Cited by 42 publications

(35 citation statements)

References 29 publications

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“…Approximately 33 samples were necessary to attain the maximum call-rate in GSEQ. A similar observation was described previously (Fokstuen et al 2011). No-call regions are one of the problems of ResAT.…”

Section: Discussionsupporting

confidence: 69%

“…This technology has been used for multiple-gene analysis in childhood hearing loss (Kothiyal et al 2010), breast-ovarian cancer syndrome (Schroeder et al 2010), dilated cardiomyopathy (Zimmerman et al 2010), X-linked intellectual disability (Jensen et al 2011), familial hypercholesterolemia (Chiou et al 2011), and hypertrophic cardiomyopathy (Fokstuen et al 2011). DiVerent research groups have shown ResAT to be a highly eYcient, relatively accurate, cost-eVective, and rapid method.…”

Section: Introductionmentioning

confidence: 99%

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Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing

et al. 2011

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Aortic aneurysm and/or dissection (AAD) is a life-threatening condition, and several syndromes are known to be related to AAD. In this study, two new technologies, resequencing array technology (ResAT) and next-generation sequencing (NGS), were used to analyze eight genes associated with syndromic AAD in 70 patients with non-syndromic AAD. Eighteen sequence variants were detected using both ResAT and NGS. In addition one of these sequence variants was detected by ResAT only and two additional variants by NGS only. Three of the 18 variants are likely to be pathogenic (in 4.3% of AAD patients and in 8.6% of a subset of patients with thoracic AAD), highlighting the importance of genetic analysis in non-syndromic AAD. ResAT and NGS similarly detected most, but not all, of the variants. Resequencing array technology was a rapid and efficient method for detecting most nucleotide substitutions, but was unable to detect short insertions/deletions, and it is impractical to update custom arrays frequently. Next-generation sequencing was able to detect almost all types of mutation, but requires improved informatics methods.

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Section: Discussionsupporting

confidence: 69%

Section: Introductionmentioning

confidence: 99%

Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing

et al. 2011

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“…These variants have previously been associated with cardiomyopathy [18][19][20] a clinical feature not detected in our two patients. A similar scenario occurs for the nonsense c.4363G > T/p.Glu1455*, already reported elsewhere [21].…”

Section: Previously Described Mutationsmentioning

confidence: 77%

MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients

Savarese

Astrea

Cassandrini

et al. 2015

Neuromuscular Disorders

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Background: Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of muscle diseases of childhood and adulthood, with variable clinical and histopathological expression depending on the type and location of the mutation. Mutations in the head and neck domains are a well-established cause of hypertrophic cardiomyopathy whereas mutation in the distal regions have been associated with a range of skeletal myopathies with or without cardiac involvement, including Laing distal myopathy and Myosin storage myopathy. Recently the spectrum of clinical phenotypes associated with mutations in MYH7 has increased, blurring this scheme and adding further phenotypes to the list. A broader disease spectrum could lead to misdiagnosis of different congenital myopathies, neurogenic atrophy and other neuromuscular conditions. Results: As a result of a multicenter Italian study we collected clinical, histopathological and imaging data from a population of 21 cases from 15 families, carrying reported or novel mutations in MYH7. Patients displayed a variable phenotype including atypical pictures, as dropped head and bent spine, which cannot be classified in previously described groups. Half of the patients showed congenital or early infantile weakness with predominant distal weakness. Conversely, patients with later onset present prevalent proximal weakness. Seven patients were also affected by cardiomyopathy mostly in the form of non-compacted left ventricle. Muscle biopsy was consistent with minicores myopathy in numerous cases. Muscle MRI was meaningful in delineating a shared pattern of selective involvement of tibialis anterior muscles, with relative sparing of quadriceps. Conclusion: This work adds to the genotype-phenotype correlation of MYH7-relatedmyopathies confirming the complexity of the disorder.

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“…Fig. 1), pediatric interventions, and cerebrovascular applications [39] as potential beneficial indications for DCB catheters. In the coronary application, DCB are not a replacement for DES.…”

Section: > a Promising Alternative To Stand-alone Balloon Angioplastymentioning

confidence: 99%

Opportunities and limitations of drug-coated balloons in interventional therapies

Scheller

2011

Herz

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Drug-coated balloons (DCB) represent a novel clinical treatment modality for coronary and peripheral artery disease. Advantages over standard angioplasty and stent technologies including homogeneous drug delivery to the vessel wall, immediate drug release without the use of a polymer, the option of using balloon catheters alone or in combination with a bare metal stent, no foreign object that remains in the body, the potential of reducing antiplatelet therapy, and lower restenosis rates in some indications. As with drug-eluting stents (DES), one cannot assume a class effect for DCB. So far, data from randomized clinical trials identify the treatment of coronary in-stent restenosis (ISR) and of de novo and restenotic lesions in peripheral artery disease as viable options. Furthermore, treatment of de novo lesions in small coronary vessels, bifurcation lesions, long lesions, pediatric interventions, and cerebrovascular applications are potential beneficial indications. In the coronary application, a strategy of DCB angioplasty with provisional spot-stenting in the case of severe dissections may become a better alternative in long and complex lesions, bifurcations, or in patients with contraindications for DES.

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Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice

Cited by 42 publications

References 29 publications

Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing

Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing

MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients

Opportunities and limitations of drug-coated balloons in interventional therapies

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