Claudine Rieubland
University of Bern
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Featured researches published by Claudine Rieubland.
Journal of Medical Genetics | 2011
Siv Fokstuen; Analia Munoz; Paola Melacini; Sabino Iliceto; Andreas Perrot; Cemil Özcelik; Xavier Jeanrenaud; Claudine Rieubland; Martin Farr; Lothar Faber; Ulrich Sigwart; François Mach; René Lerch; Jean-Louis Blouin
Background Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease (1/500) and the most common cause of sudden cardiac death in young people. Pathogenic mutation detection of HCM is having a growing impact on the medical management of patients and their families. However, the remarkable genetic and allelic heterogeneity makes molecular analysis by conventional methods very time-consuming, expensive and difficult to realise in a routine diagnostic molecular laboratory. Method and results The authors used their custom DNA resequencing array which interrogates all possible single-nucleotide variants on both strands of all exons (n=160), splice sites and 5′-untranslated region of 12 HCM genes (27 000 nucleotides). The results for 122 unrelated patients with HCM are presented. Thirty-three known or novel potentially pathogenic heterozygous single-nucleotide variants were identified in 38 patients (31%) in genes MYH7, MYBPC3, TNNT2, TNNI3, TPM1, MYL3 and ACTC1. Conclusions Although next-generation sequencing will replace all large-scale sequencing platforms for inherited cardiac disorders in the near future, this HCM resequencing array is currently the most rapid, cost-effective and reasonably efficient technology for first-tier mutation screening of HCM in clinical practice. Because of its design, the array is also an appropriate tool for initial screening of other inherited forms of cardiomyopathy.
European Journal of Human Genetics | 2011
Jane Hurst; Dagan Jenkins; Pradeep Vasudevan; Maria Kirchhoff; Flemming Skovby; Claudine Rieubland; Sabina Gallati; Olaf Rittinger; Peter M. Kroisel; David W. Johnson; Leslie G. Biesecker; Andrew O.M. Wilkie
Greig cephalopolysyndactyly syndrome (GCPS) is a multiple congenital malformation characterised by limb and craniofacial anomalies, caused by heterozygous mutation or deletion of GLI3. We report four boys and a girl who were presented with trigonocephaly due to metopic synostosis, in association with pre- and post-axial polydactyly and cutaneous syndactyly of hands and feet. Two cases had additional sagittal synostosis. None had a family history of similar features. In all five children, the diagnosis of GCPS was confirmed by molecular analysis of GLI3 (two had intragenic mutations and three had complete gene deletions detected on array comparative genomic hybridisation), thus highlighting the importance of trigonocephaly or overt metopic or sagittal synostosis as a distinct presenting feature of GCPS. These observations confirm and extend a recently proposed association of intragenic GLI3 mutations with metopic synostosis; moreover, the three individuals with complete deletion of GLI3 were previously considered to have Carpenter syndrome, highlighting an important source of diagnostic confusion.
European Journal of Medical Genetics | 2015
Saskia M. Maas; Adam Shaw; Hennie Bikker; Hermann-Josef Lüdecke; Karin van der Tuin; Magdalena Badura-Stronka; E Belligni; Elisa Biamino; Maria Teresa Bonati; Daniel R. Carvalho; Jan-Maarten Cobben; Stella A. de Man; Nicolette S. den Hollander; Nataliya Di Donato; Livia Garavelli; Sabine Grønborg; Johanna C. Herkert; A. Jeannette M. Hoogeboom; Aleksander Jamsheer; Anna Latos-Bielenska; Anneke Maat-Kievit; Cinzia Magnani; Carlo Marcelis; Inge B. Mathijssen; Maartje Nielsen; Ellen Otten; Lilian Bomme Ousager; Jacek Pilch; Astrid S. Plomp; G. Poke
Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities, and subdivided in TRPS I, caused by mutations in TRPS1, and TRPS II, caused by a contiguous gene deletion affecting (amongst others) TRPS1 and EXT1. We performed a collaborative international study to delineate phenotype, natural history, variability, and genotype-phenotype correlations in more detail. We gathered information on 103 cytogenetically or molecularly confirmed affected individuals. TRPS I was present in 85 individuals (22 missense mutations, 62 other mutations), TRPS II in 14, and in 5 it remained uncertain whether TRPS1 was partially or completely deleted. Main features defining the facial phenotype include fine and sparse hair, thick and broad eyebrows, especially the medial portion, a broad nasal ridge and tip, underdeveloped nasal alae, and a broad columella. The facial manifestations in patients with TRPS I and TRPS II do not show a significant difference. In the limbs the main findings are short hands and feet, hypermobility, and a tendency for isolated metacarpals and metatarsals to be shortened. Nails of fingers and toes are typically thin and dystrophic. The radiological hallmark are the cone-shaped epiphyses and in TRPS II multiple exostoses. Osteopenia is common in both, as is reduced linear growth, both prenatally and postnatally. Variability for all findings, also within a single family, can be marked. Morbidity mostly concerns joint problems, manifesting in increased or decreased mobility, pain and in a minority an increased fracture rate. The hips can be markedly affected at a (very) young age. Intellectual disability is uncommon in TRPS I and, if present, usually mild. In TRPS II intellectual disability is present in most but not all, and again typically mild to moderate in severity. Missense mutations are located exclusively in exon 6 and 7 of TRPS1. Other mutations are located anywhere in exons 4-7. Whole gene deletions are common but have variable breakpoints. Most of the phenotype in patients with TRPS II is explained by the deletion of TRPS1 and EXT1, but haploinsufficiency of RAD21 is also likely to contribute. Genotype-phenotype studies showed that mutations located in exon 6 may have somewhat more pronounced facial characteristics and more marked shortening of hands and feet compared to mutations located elsewhere in TRPS1, but numbers are too small to allow firm conclusions.
European Journal of Medical Genetics | 2014
Carolina Courage; Gunnar Houge; Sabina Gallati; Jack Schjelderup; Claudine Rieubland
We report two patients with microdeletions in chromosomal subdomain 15q26.1 encompassing only two genes, CHD2 and RGMA. Both patients present a distinct phenotype with intellectual disability, epilepsy, behavioral issues, truncal obesity, scoliosis and facial dysmorphism. CHD2 haploinsufficiency is known to cause intellectual disability and epilepsy, RGMA haploinsufficiency might explain truncal obesity with onset around puberty observed in our two patients.
American Journal of Medical Genetics Part A | 2017
Sylvia Huisman; Paul A. Mulder; Egbert J. W. Redeker; Ingrid Bader; Anne Marie Bisgaard; Alice S. Brooks; Anna Cereda; Constanza Cinca; Dinah Clark; Valérie Cormier-Daire; Matthew A. Deardorff; Karin E. M. Diderich; Mariet W. Elting; Anthonie J. van Essen; David Fitzpatrick; Cristina Gervasini; Gabriele Gillessen-Kaesbach; Katta M. Girisha; Yvonne Hilhorst-Hofstee; Saskia Hopman; Denise Horn; Mala Isrie; Sandra Jansen; Cathrine Jespersgaard; Frank J. Kaiser; Maninder Kaur; Tjitske Kleefstra; Ian D. Krantz; Phillis Lakeman; Annemiek M. Landlust
SMC1A encodes one of the proteins of the cohesin complex. SMC1A variants are known to cause a phenotype resembling Cornelia de Lange syndrome (CdLS). Exome sequencing has allowed recognizing SMC1A variants in individuals with encephalopathy with epilepsy who do not resemble CdLS. We performed an international, interdisciplinary study on 51 individuals with SMC1A variants for physical and behavioral characteristics, and compare results to those in 67 individuals with NIPBL variants. For the Netherlands all known individuals with SMC1A variants were studied, both with and without CdLS phenotype. Individuals with SMC1A variants can resemble CdLS, but manifestations are less marked compared to individuals with NIPBL variants: growth is less disturbed, facial signs are less marked (except for periocular signs and thin upper vermillion), there are no major limb anomalies, and they have a higher level of cognitive and adaptive functioning. Self‐injurious behavior is more frequent and more severe in the NIPBL group. In the Dutch group 5 of 13 individuals (all females) had a phenotype that shows a remarkable resemblance to Rett syndrome: epileptic encephalopathy, severe or profound intellectual disability, stereotypic movements, and (in some) regression. Their missense, nonsense, and frameshift mutations are evenly spread over the gene. We conclude that SMC1A variants can result in a phenotype resembling CdLS and a phenotype resembling Rett syndrome. Resemblances between the SMC1A group and the NIPBL group suggest that a disturbed cohesin function contributes to the phenotype, but differences between these groups may also be explained by other underlying mechanisms such as moonlighting of the cohesin genes.
Epilepsia | 2012
Barbara Goeggel Simonetti; Claudine Rieubland; Carolina Courage; Susi Strozzi; Sibylle Tschumi; Sabina Gallati; Johannes R. Lemke
Purpose: Sodium channel gene aberrations are associated with a wide range of seizure disorders, particularly Dravet syndrome. They usually consist of missense or truncating gene mutations or deletions. Duplications involving multiple genes encoding for different sodium channels are not widely known. This article summarizes the clinical, radiologic, and genetic features of patients with 2q24 duplication involving the sodium channel gene cluster.
European Heart Journal | 2018
Alban-Elouen Baruteau; Florence Kyndt; Elijah R. Behr; Arja S Vink; Matthias Lachaud; Anna Joong; Jean-Jacques Schott; Minoru Horie; Isabelle Denjoy; Lia Crotti; Wataru Shimizu; Johan Martijn Bos; Elizabeth A. Stephenson; Leonie C.H. Wong; Dominic Abrams; Andrew M. Davis; Annika Winbo; Anne M. Dubin; Shubhayan Sanatani; Leonardo Liberman; Juan Pablo Kaski; Boris Rudic; Sit Yee Kwok; Claudine Rieubland; Jacob Tfelt-Hansen; George F. Van Hare; Béatrice Guyomarc’h-Delasalle; Nico A. Blom; Yanushi D. Wijeyeratne; Jean-Baptiste Gourraud
Aims To clarify the clinical characteristics and outcomes of children with SCN5A-mediated disease and to improve their risk stratification. Methods and results A multicentre, international, retrospective cohort study was conducted in 25 tertiary hospitals in 13 countries between 1990 and 2015. All patients ≤16 years of age diagnosed with a genetically confirmed SCN5A mutation were included in the analysis. There was no restriction made based on their clinical diagnosis. A total of 442 children {55.7% boys, 40.3% probands, median age: 8.0 [interquartile range (IQR) 9.5] years} from 350 families were included; 67.9% were asymptomatic at diagnosis. Four main phenotypes were identified: isolated progressive cardiac conduction disorders (25.6%), overlap phenotype (15.6%), isolated long QT syndrome type 3 (10.6%), and isolated Brugada syndrome type 1 (1.8%); 44.3% had a negative electrocardiogram phenotype. During a median follow-up of 5.9 (IQR 5.9) years, 272 cardiac events (CEs) occurred in 139 (31.5%) patients. Patients whose mutation localized in the C-terminus had a lower risk. Compound genotype, both gain- and loss-of-function SCN5A mutation, age ≤1 year at diagnosis in probands and age ≤1 year at diagnosis in non-probands were independent predictors of CE. Conclusion In this large paediatric cohort of SCN5A mutation-positive subjects, cardiac conduction disorders were the most prevalent phenotype; CEs occurred in about one-third of genotype-positive children, and several independent risk factors were identified, including age ≤1 year at diagnosis, compound mutation, and mutation with both gain- and loss-of-function.
Swiss Medical Weekly | 2018
Argelia Medeiros Domingo; Stephan A. Bolliger; Christoph Gräni; Claudine Rieubland; Deborah Hersch; Babken Asatryan; Christian Schyma; Ardan M. Saguner; Daniel Wyler; Zahir Bhuiyan; Florence Fellman; Antonio Osculati; Rebekka Ringger; Siv Fokstuen; Sara Sabatasso; Matthias Wilhelm; Katarzyna Michaud
There is a need to standardise, within a coordinated Swiss framework, the practical aspects of genetic testing and genetic counselling on possibly inherited cardiovascular disorders in relatives of a sudden cardiac death (SCD) victim. Because of the major advances in genetic investigation techniques and recent publication of international guidelines in the field of cardiology, genetics and pathology, we consider it important to summarise the current evidence and propose an optimal approach to post-mortem genetic investigation for SCD victims and their families in Switzerland. In this article, we discuss important technical, financial and medico-ethical aspects, and provide updated information on specific situations in which forensic pathologists, general practitioners and cardiologists should suspect a genetic origin of the SCD. At present, the principles of benefit, the duty to warn and the impact of genetic information for family members at risk are considered as strong justifications for post-mortem disclosure and prevail over the arguments of respect for a deceased persons privacy and confidentiality. This paper underlines also the need to update and improve the general knowledge concerning the genetic risk of cardiovascular pathologies, the importance to perform an autopsy and post-mortem genetic testing in SCD victims, and to develop standardized post-mortem disclosure policy at national and international levels for SCD cases and relatives.
Swiss Medical Weekly | 2015
Matthias Wilhelm; Stephan A. Bolliger; Christine Bartsch; Siv Fokstuen; Christoph Gräni; Viktor Martos; Argelia Medeiros Domingo; Antonio Osculati; Claudine Rieubland; Sara Sabatasso; Ardan Muammer Saguner; Christian Schyma; Joëlle Tschui; Daniel Wyler; Zahurul A. Bhuiyan; Florence Fellmann; Katarzyna Michaud
European Journal of Medical Genetics | 2010
Claudine Rieubland; Sébastien Jacquemont; Laureane Mittaz; Maria-Chiara Osterheld; Yvan Vial; Andrea Superti-Furga; Sheila Unger; Luisa Bonafé