13 results on '"Capri Y"'
Search Results
2. Beckwith–Wiedemann syndrome and long QT syndrome due to familial-balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene
- Author
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Kaltenbach, S, Capri, Y, Rossignol, S, Denjoy, I, Soudée, S, Aboura, A, Baumann, C, and Verloes, A
- Published
- 2013
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3. Refining the phenotype associated with biallelic DNAJC21 mutations
- Author
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D'Amours, G., primary, Lopes, F., additional, Gauthier, J., additional, Saillour, V., additional, Nassif, C., additional, Wynn, R., additional, Alos, N., additional, Leblanc, T., additional, Capri, Y., additional, Nizard, S., additional, Lemyre, E., additional, Michaud, J.L., additional, Pelletier, V.-A., additional, Pastore, Y.D., additional, and Soucy, J.-F., additional
- Published
- 2018
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4. INTU‐related oral‐facial‐digital syndrome type VI: A confirmatory report
- Author
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Bruel, A.‐L., primary, Levy, J., additional, Elenga, N., additional, Defo, A., additional, Favre, A., additional, Lucron, H., additional, Capri, Y., additional, Perrin, L., additional, Passemard, S., additional, Vial, Y., additional, Tabet, A.‐C., additional, Faivre, L., additional, Thauvin‐Robinet, C., additional, and Verloes, A., additional
- Published
- 2018
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5. <italic>INTU</italic>‐related oral‐facial‐digital syndrome type VI: A confirmatory report.
- Author
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Bruel, A.‐L., Levy, J., Elenga, N., Defo, A., Favre, A., Lucron, H., Capri, Y., Perrin, L., Passemard, S., Vial, Y., Tabet, A.‐C., Faivre, L., Thauvin‐Robinet, C., and Verloes, A.
- Subjects
HUMAN abnormalities ,ETIOLOGY of diseases ,PATHOGENIC microorganisms ,PHENOTYPES ,MEDICAL care - Abstract
Oral‐facial‐digital (OFD) syndromes are a subgroup of ciliopathies distinguished by the co‐occurrence of hamartomas and/or multiple frenula of the oral region and digital anomalies. Several clinical forms of OFD syndromes are distinguished by their associated anomalies and/or inheritance patterns, and at least 20 genetic types of OFD syndromes have been delineated. We describe here a child with preaxial and postaxial polydactyly, lingual hamartoma, a congenital heart defect, delayed development and cerebellar peduncles displaying the molar tooth sign. Whole‐exome sequencing and SNP array identified compound heterozygous variants in the
INTU gene, which encodes a protein involved in the positioning of the ciliary basal body. INTU is a subunit of the CPLANE multiprotein complex essential for the assembly of IFT‐A particles and intraflagellar transport. This report of a second patient withINTU ‐related OFD syndrome and the further delineation of its neuroimaging and skeletal phenotype now allowINTU ‐related OFD syndromes to be classified within the OFD syndrome type VI group. Patients display a phenotype similar to that of mice with a hypomorphic mutation ofIntu , but with the addition of a heart defect. [ABSTRACT FROM AUTHOR]- Published
- 2018
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6. Beckwith-Wiedemann syndrome and long QT syndrome due to familial-balanced translocation t(11;17)(p15.5;q21.3) involving theKCNQ1gene
- Author
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Kaltenbach, S, primary, Capri, Y, additional, Rossignol, S, additional, Denjoy, I, additional, Soudée, S, additional, Aboura, A, additional, Baumann, C, additional, and Verloes, A, additional
- Published
- 2012
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7. Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.
- Author
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Gerasimenko A, Mignot C, Naggara O, Coulet F, Ekram S, Heide S, Sorato C, Mazowiecki M, Perrin L, Colas C, Cusin V, Caux F, Dardenne A, El Chehadeh S, Verloes A, Maurey H, Afenjar A, Petit F, Barete S, Boespflug-Tanguy O, Bourrat E, Capri Y, Ciorna V, Deb W, Doummar D, Perrier A, Guédon A, Houdart E, Isidor B, Jacquemont ML, Buffet C, Mercier S, Passemard S, Riquet A, Ruaud L, Schaefer E, Heron D, Bisdorff A, and Benusiglio PR
- Subjects
- Humans, Adult, Female, Male, Young Adult, Magnetic Resonance Imaging, Mutation, PTEN Phosphohydrolase genetics, Central Nervous System Vascular Malformations genetics, Central Nervous System Vascular Malformations complications, Central Nervous System Vascular Malformations diagnostic imaging, Central Nervous System Vascular Malformations diagnosis, Hamartoma Syndrome, Multiple genetics, Hamartoma Syndrome, Multiple complications
- Abstract
Central nervous system (CNS) dural arteriovenous fistulas (DAVF) have been reported in PTEN-related hamartoma tumor syndrome (PHTS). However, PHTS-associated DAVF remain an underexplored field of the PHTS clinical landscape. Here, we studied cases with a PTEN pathogenic variant identified between 2007 and 2020 in our laboratory (n = 58), and for whom brain imaging was available. Two patients had DAVF (2/58, 3.4%), both presenting at advanced stages: a 34-year-old man with a left lateral sinus DAVF at immediate risk of hemorrhage, and a 21-year-old woman with acute intracranial hypertension due to a torcular DAVF. Interestingly, not all patients had 3D TOF/MRA, the optimal sequences to detect DAVF. Early diagnosis of DAVF can be lifesaving, and is easier to treat compared to developed, proliferative, or complex lesions. As a result, one should consider brain MRI with 3D TOF/MRA in PHTS patients at genetic diagnosis, with subsequent surveillance on a case-by-case basis., (© 2024 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.)
- Published
- 2024
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8. DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy.
- Author
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Capri Y, Bourmance L, Dupont C, Saint-Frison MH, Guimiot F, Grotto S, Chitrit Y, Laquerrière A, and Melki J
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- Adult, Humans, Pregnancy, Female, Dystonin genetics, Protein Isoforms, Arthrogryposis diagnosis, Arthrogryposis genetics, Hereditary Sensory and Autonomic Neuropathies
- Abstract
Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. Through whole-exome sequencing combined with arrayCGH from DNA of a fetus presenting with early onset AMC, we identified biallelic loss of function variants in Dystonin (DST): a stop gain variant (NM_001144769.5:c.12208G > T:p.(Glu4070Ter)) on the neuronal isoform and a 175 kb microdeletion including exons 25-96 of this isoform on the other allele [NC_000006.11:g.(56212278_56323554)_(56499398_56507586)del]. Transmission electron microscopy of the sciatic nerve revealed abnormal morphology of the peripheral nerve with severe hypomyelination associated with dramatic reduction of fiber density which highlights the critical role of DST in peripheral nerve axonogenesis during development in human. Variants in the neuronal isoforms of DST cause hereditary sensory and autonomic neuropathy which has been reported in several unrelated families with highly variable age of onset from fetal to adult onset. Our data enlarge the disease mechanisms of neurogenic AMC., (© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
- Published
- 2023
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9. Early-onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling.
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Baer S, Obringer C, Julia S, Chelly J, Capri Y, Gras D, Baujat G, Felix TM, Doray B, Sanchez Del Pozo J, Ramos LM, Burglen L, Laugel V, and Calmels N
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- Age of Onset, Child, Preschool, Cockayne Syndrome diagnosis, Cockayne Syndrome genetics, Cockayne Syndrome physiopathology, DNA Repair genetics, Early Diagnosis, Female, Fetus, Genetic Counseling trends, Genetic Predisposition to Disease genetics, Humans, Infant, Infant, Newborn, Male, Mutation genetics, Nervous System Diseases diagnosis, Nervous System Diseases physiopathology, Prognosis, Xeroderma Pigmentosum diagnosis, Xeroderma Pigmentosum genetics, Xeroderma Pigmentosum physiopathology, DNA Helicases genetics, DNA Repair Enzymes genetics, DNA-Binding Proteins genetics, Endonucleases genetics, Nervous System Diseases genetics, Transcription Factors genetics, Xeroderma Pigmentosum Group D Protein genetics
- Abstract
Nucleotide excision repair associated diseases comprise overlapping phenotypes and a wide range of outcomes. The early stages still remain under-investigated and underdiagnosed, even although an early recognition of the first symptoms is of utmost importance for appropriate care and genetic counseling. We systematically collected clinical and molecular data from the literature and from newly diagnosed NER patients with neurological impairment, presenting clinical symptoms before the age of 12 months, including foetal cases. One hundred and eighty-five patients were included, 13 with specific symptoms during foetal life. Arthrogryposis, microcephaly, cataracts, and skin anomalies are the most frequently reported signs in early subtypes. Non ERCC6/CSB or ERCC8/CSA genes are overrepresented compared to later onset cohorts: 19% patients of this cohort presented variants in ERCC1, ERCC2/XPD, ERCC3/XPB or ERCC5/XPG. ERCC5/XPG is even the most frequently involved gene in foetal cases (10/13 cases, [4/7 families]). In this cohort, the mutated gene, the age of onset, the type of disease, severe global developmental delay, IUGR and skin anomalies were associated with earlier death. This large survey focuses on specific symptoms that should attract the attention of clinicians towards early-onset NER diagnosis in foetal and neonatal period, without waiting for the completeness of classical criteria., (© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
- Published
- 2020
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10. Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants.
- Author
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Ranza E, Guimier A, Verloes A, Capri Y, Marques C, Auclair M, Mathieu-Dramard M, Morin G, Thevenon J, Faivre L, Thauvin-Robinet C, Innes AM, Dyment DA, Vigouroux C, and Amiel J
- Subjects
- Female, Humans, MAP Kinase Signaling System genetics, Male, Mitogen-Activated Protein Kinases genetics, Phenotype, Phosphatidylinositol 3-Kinases genetics, Signal Transduction genetics, Genetic Variation genetics, Growth Disorders genetics, Hypercalcemia genetics, Metabolic Diseases genetics, Nephrocalcinosis genetics, Noonan Syndrome genetics, Protein Tyrosine Phosphatase, Non-Receptor Type 11 genetics
- Abstract
Overlapping syndromes such as Noonan, Cardio-Facio-Cutaneous, Noonan syndrome (NS) with multiple lentigines and Costello syndromes are genetically heterogeneous conditions sharing a dysregulation of the RAS/mitogen-activated protein kinase (MAPK) pathway and are known collectively as the RASopathies. PTPN11 was the first disease-causing gene identified in NS and remains the more prevalent. We report seven patients from three families presenting heterozygous missense variants in PTPN11 probably responsible for a disease phenotype distinct from the classical Noonan syndrome. The clinical presentation and common features of these seven cases overlap with the SHORT syndrome. The latter is the consequence of PI3K/AKT signaling deregulation with the predominant disease-causing gene being PIK3R1. Our data suggest that the phenotypic spectrum associated with pathogenic variants of PTPN11 could be wider than previously described, and this could be due to the dual activity of SHP2 (ie, PTPN11 gene product) on the RAS/MAPK and PI3K/AKT signaling., (© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
- Published
- 2020
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11. Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient.
- Author
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Marsili L, Overwater E, Hanna N, Baujat G, Baars MJH, Boileau C, Bonneau D, Brehin AC, Capri Y, Cheung HY, Dulfer E, Gerard M, Gouya L, Hilhorst-Hofstee Y, Houweling AC, Isidor B, Le Gloan L, Menke LA, Odent S, Morice-Picard F, Vanlerberghe C, Voorhoeve E, van Tintelen JP, Maugeri A, and Arnaud P
- Subjects
- Adolescent, Adult, Arachnodactyly pathology, Child, Child, Preschool, Connective Tissue Diseases pathology, Female, Genetic Predisposition to Disease, Genotype, Heterozygote, Homozygote, Humans, Loeys-Dietz Syndrome pathology, Male, Middle Aged, Mutation genetics, Pedigree, Phenotype, Transforming Growth Factor beta3 deficiency, Young Adult, Arachnodactyly genetics, Connective Tissue Diseases genetics, Loeys-Dietz Syndrome genetics, Transforming Growth Factor beta3 genetics
- Abstract
Disease-causing variants in TGFB3 cause an autosomal dominant connective tissue disorder which is hard to phenotypically delineate because of the small number of identified cases. The purpose of this retrospective cross-sectional multicenter study is to elucidate the genotype and phenotype in an international cohort of TGFB3 patients. Eleven (eight novel) TGFB3 disease-causing variants were identified in 32 patients (17 families). Aortic root dilatation and mitral valve disease represented the most common cardiovascular findings, reported in 29% and 32% of patients, respectively. Dissection involving distal aortic segments occurred in two patients at age 50 and 52 years. A high frequency of systemic features (65% high-arched palate, 63% arachnodactyly, 57% pectus deformity, 52% joint hypermobility) was observed. In familial cases, incomplete penetrance and variable clinical expressivity were noted. Our cohort included the first described homozygous patient, who presented with a more severe phenotype compared to her heterozygous relatives. In conclusion, TGFB3 variants were associated with a high percentage of systemic features and aortic disease (dilatation/dissection) in 35% of patients. No deaths occurred from cardiovascular events or pregnancy-related complications. Nevertheless, homozygosity may be driving a more severe phenotype., (© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
- Published
- 2020
- Full Text
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12. LEF1 haploinsufficiency causes ectodermal dysplasia.
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Lévy J, Capri Y, Rachid M, Dupont C, Vermeesch JR, Devriendt K, Verloes A, Tabet AC, and Bailleul-Forestier I
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- Adult, Animals, Child, Preschool, Ectodermal Dysplasia diagnosis, Ectodermal Dysplasia pathology, Ectodermal Dysplasia 1, Anhidrotic diagnosis, Ectodermal Dysplasia 1, Anhidrotic pathology, Female, Haploinsufficiency genetics, Humans, Male, Mice, NF-kappa B genetics, Signal Transduction genetics, Young Adult, beta Catenin genetics, Ectodermal Dysplasia genetics, Ectodermal Dysplasia 1, Anhidrotic genetics, Lymphoid Enhancer-Binding Factor 1 genetics
- Abstract
Ectodermal dysplasias are a family of genodermatoses commonly associated with variants in the ectodysplasin/NF-κB or the Wnt/β-catenin pathways. Both pathways are involved in signal transduction from ectoderm to mesenchyme during the development of ectoderm-derived structures. Wnt/β-catenin pathway requires the lymphoid enhancer-binding factor 1 (LEF1), a nuclear mediator, to activate target gene expression. In mice, targeted inactivation of the LEF1 gene results in a complete block of development of multiple ectodermal appendages. We report two unrelated patients with 4q25 de novo deletion encompassing LEF1, associated with severe oligodontia of primary and permanent dentition, hypotrichosis and hypohidrosis compatible with hypohidrotic ectodermal dysplasia. Taurodontism and a particular alveolar bone defect were also observed in both patients. So far, no pathogenic variants or variations involving the LEF1 gene have been reported in human. We provide further evidence for LEF1 haploinsufficiency role in ectodermal dysplasia and delineate its clinical phenotype., (© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
- Published
- 2020
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13. Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.
- Author
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Bizaoui V, Michot C, Baujat G, Amouroux C, Baron S, Capri Y, Cohen-Solal M, Collet C, Dieux A, Geneviève D, Isidor B, Monnot S, Rossi M, Rothenbuhler A, Schaefer E, and Cormier-Daire V
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- Alleles, Disease Management, Female, Genetic Association Studies, Genetic Predisposition to Disease, Genotype, Humans, Male, Mutation, Phenotype, Practice Guidelines as Topic, Pycnodysostosis genetics, Radiography, Pycnodysostosis diagnosis, Pycnodysostosis therapy
- Abstract
Pycnodysostosis is a lysosomal autosomal recessive skeletal dysplasia characterized by osteosclerosis, short stature, acro-osteolysis, facial features and an increased risk of fractures. The clinical heterogeneity of the disease and its rarity make it difficult to provide patients an accurate prognosis, as well as appropriate care and follow-up. French physicians from the OSCAR network have been asked to fill out questionnaires collecting molecular and clinical data for 27 patients issued from 17 unrelated families. All patients showed short stature (mean = -3.5 SD) which was more severe in females (P = .006). The mean fracture rate was moderate (0.21 per year), with four fractures in total average. About 75% underwent at least one surgery, with an average number of 2.1 interventions per patient. About 50% required non-invasive assisted ventilation due to sleep apnea (67%). About 29% showed psychomotor difficulties and 33% needed a school assistant or adapted schooling. No patient had any psychological evaluation or follow-up. Molecular data were available for 14 families. Growth hormone administration was efficient on linear growth in 40% of cases. We propose several axis of management, such as systematic cerebral MRI for Chiari malformation screening at diagnosis and regular psychological follow-up., (© 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
- Published
- 2019
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