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1. Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

Author

Yannis Duffourd, Catherine Sarret, B. Catteau, Rachel G. Knox, Chloé Quélin, Cyril Mignot, Martin Chevarin, P. Callier, Diana Rodriguez, Alexis Arzimanoglou, Robert Olaso, David Geneviève, Arthur Sorlin, Sylvie Odent, Christel Thauvin, Victoria E. R. Parker, Pierre Vabres, Louise Goujon, Malika Keddar, Melissa Riachi, Sylvie Fraitag, Laurence Faivre, Emmanuelle Blanchard, Satyamaanasa Polubothu, Marie-Line Jacquemont, Jean-Baptiste Rivière, Anne Boland, Jean-François Deleuze, Paul Rollier, Véronique Darmency, Marie-Hélène Aubriot-Lorton, Yline Capri, V. Carmignac, Daniel Amram, Catherine Vincent-Delorme, Paul Kuentz, Marc Delepine, Didier Bessis, Robert K. Semple, Sarah Grotto, Veronica A. Kinsler, Laurent Guibaud, Christophe Philippe, Jean-Benoît Courcet, Apollo - University of Cambridge Repository, Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Pitié-Salpêtrière [AP-HP], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Morphogénèse et antigénicité du VIH et du virus des Hépatites (MAVIVH - U1259 Inserm - CHRU Tours ), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), FHU TRANSLAD (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), University of Cambridge [UK] (CAM), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Great Ormond Street Hospital for Children [London] (GOSH), University College of London [London] (UCL), Institut de Génomique d'Evry (IG), Université Paris-Saclay-Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), CHU Pontchaillou [Rennes], AP-HP Hôpital universitaire Robert-Debré [Paris], Centre Hospitalier Universitaire de La Réunion (CHU La Réunion), CHI Créteil, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Hospices Civils de Lyon (HCL), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut Pascal (IP), Centre National de la Recherche Scientifique (CNRS)-Université Clermont Auvergne (UCA)-Institut national polytechnique Clermont Auvergne (INP Clermont Auvergne), Université Clermont Auvergne (UCA)-Université Clermont Auvergne (UCA), CHU Clermont-Ferrand, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Pathogenesis and Control of Chronic and Emerging Infections (PCCEI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Université des Antilles (UA)-Etablissement français du don du sang [Montpellier], Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Hôpital d'Enfants [CHU Dijon], Hôpital du Bocage, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)-Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), University of Edinburgh, and BOHAUD, FRANCOISE

Subjects
0301 basic medicine, Pathology, medicine.medical_specialty, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Melanocyte, Mechanistic Target of Rapamycin Complex 1, Article, 03 medical and health sciences, Tuberous sclerosis, Epilepsy, 0302 clinical medicine, medicine, Humans, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Megalencephaly, Genetics (clinical), PI3K/AKT/mTOR pathway, Hypopigmentation, business.industry, Mosaicism, TOR Serine-Threonine Kinases, Macrocephaly, Correction, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Phenotype, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], medicine.symptom, business, 030217 neurology & neurosurgery, Immunostaining
Abstract

Hypomelanosis of Ito (HI) is a skin marker of somatic mosaicism. Mosaic MTOR pathogenic variants have been reported in HI with brain overgrowth. We sought to delineate further the pigmentary skin phenotype and clinical spectrum of neurodevelopmental manifestations of MTOR-related HI. From two cohorts totaling 71 patients with pigmentary mosaicism, we identified 14 patients with Blaschko-linear and one with flag-like pigmentation abnormalities, psychomotor impairment or seizures, and a postzygotic MTOR variant in skin. Patient records, including brain magnetic resonance image (MRI) were reviewed. Immunostaining (n = 3) for melanocyte markers and ultrastructural studies (n = 2) were performed on skin biopsies. MTOR variants were present in skin, but absent from blood in half of cases. In a patient (p.[Glu2419Lys] variant), phosphorylation of p70S6K was constitutively increased. In hypopigmented skin of two patients, we found a decrease in stage 4 melanosomes in melanocytes and keratinocytes. Most patients (80%) had macrocephaly or (hemi)megalencephaly on MRI. MTOR-related HI is a recognizable neurocutaneous phenotype of patterned dyspigmentation, epilepsy, intellectual deficiency, and brain overgrowth, and a distinct subtype of hypomelanosis related to somatic mosaicism. Hypopigmentation may be due to a defect in melanogenesis, through mTORC1 activation, similar to hypochromic patches in tuberous sclerosis complex.

Published
2021
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2. Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

Author

Catherine Sarret, Satyamaanasa Polubothu, V. Carmignac, Daniel Amram, Anne Boland, Chloé Quélin, Véronique Darmency, Christophe Philippe, Emmanuelle Blanchard, Martin Chevarin, P. Callier, Veronica A. Kinsler, Yannis Duffourd, Robert Olaso, Jean-Baptiste Rivière, Marie-Hélène Aubriot-Lorton, Sylvie Fraitag, Christel Thauvin, Malika Keddar, B. Catteau, Alexis Arzimanoglou, Cyril Mignot, Rachel G. Knox, Didier Bessis, Sarah Grotto, Robert K. Semple, Marie-Line Jacquemont, Arthur Sorlin, Sylvie Odent, David Geneviève, Laurent Guibaud, Melissa Riachi, Yline Capri, Pierre Vabres, Victoria E. R. Parker, Louise Goujon, Jean-Benoît Courcet, Laurence Faivre, Jean-François Deleuze, Paul Rollier, Marc Delepine, Catherine Vincent-Delorme, Paul Kuentz, Diana Rodriguez, Institut Pascal (IP), Centre National de la Recherche Scientifique (CNRS)-Université Clermont Auvergne (UCA)-Institut national polytechnique Clermont Auvergne (INP Clermont Auvergne), and Université Clermont Auvergne (UCA)-Université Clermont Auvergne (UCA)

Subjects
business.industry, Medicine, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Computational biology, business, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), PI3K/AKT/mTOR pathway, Human genetics
Abstract

International audience

Published
2021
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3. Pathogenesis and therapeutic targets in spinal muscular atrophy (SMA)

Author

Catherine Sarret, S. Lefebvre, Institut Pascal (IP), and SIGMA Clermont (SIGMA Clermont)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Centre National de la Recherche Scientifique (CNRS)

Subjects
Genetic Markers, Neuromuscular disease, [SDV]Life Sciences [q-bio], Central nervous system, SMN1, Spinal Muscular Atrophies of Childhood, Pathogenesis, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, medicine, Animals, Humans, ComputingMilieux_MISCELLANEOUS, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Genetic Therapy, Spinal muscular atrophy, Motor neuron, medicine.disease, Spinal cord, SMA, Survival of Motor Neuron 1 Protein, nervous system diseases, 3. Good health, Survival of Motor Neuron 2 Protein, medicine.anatomical_structure, Neuromuscular Agents, Mutation, Pediatrics, Perinatology and Child Health, RNA, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], business, Neuroscience, Biomarkers
Abstract

Autosomal-recessive spinal muscular atrophy (SMA) is characterized by the loss of specific motor neurons of the spinal cord and skeletal muscle atrophy. SMA is caused by mutations or deletions of the survival motor neuron 1 (SMN1) gene, and disease severity correlates with the expression levels of the nearly identical copy gene, SMN2. Both genes ubiquitously express SMN protein, but SMN2 generates only low levels of protein that do not fully compensate for the loss-of-function of SMN1. SMN protein forms a multiprotein complex essential for the cellular assembly of ribonucleoprotein particles involved in diverse aspects of RNA metabolism. Other studies using animal models revealed a spatio-temporal requirement of SMN that is high during the development of the neuromuscular system and later, in the general maintenance of cellular and tissues homeostasis. These observations define a period for maximum therapeutic efficiency of SMN restoration, and suggest that cells outside the central nervous system may also participate in the pathogenesis of SMA. Finally, recent innovative therapies have been shown to mitigate SMN deficiency and have been approved to treat SMA patients. We briefly review major findings from the past twenty-five years of SMA research. © 2020 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.

Published
2020
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4. Intérêt du dosage de la tryptase sérique aux urgences pédiatriques

Author

Catherine Sarret, André Labbé, A. Brunel, S. Ughetto, and A. Tridon

Subjects
Gynecology, medicine.medical_specialty, biology, business.industry, medicine, biology.protein, Immunology and Allergy, Tryptase, Serum tryptase, business
Abstract

Resume L’anaphylaxie aigue (ANA) est rare chez l’enfant. Son diagnostic est difficile surtout quand il s’agit d’une manifestation inaugurale. Les urgences pediatriques recoivent des pathologies variees dont certaines sont allergiques. Objectif de l’etude Analyser l’interet du dosage de la tryptase serique dans une population d’enfants admis dans un service d’urgence pediatrique (SUP) pour une suspicion d’ANA. Type d’etude Analyse retrospective de 77 enfants recus dans un SUP avec un diagnostic de suspicion d’allergie aigue (AA). Resultats Sur les 77 dossiers analyses, 61 ont ete retenus car ils presentaient des manifestations cliniques compatibles avec une AA. Quarante avaient des symptomes evocateurs d’ANA et 21 une urticaire isolee (UI). L’âge moyen est identique dans les deux groupes (6,47 ans versus 6,07 ans). En cas d’ANA les taux de tryptase serique sont significativement plus elevees (12,41 ± 8,9 μg/l) que ceux obtenus dans les cas d’UI (5,55 ± 3,17 μg/l), p : 0,0005. Parmi les enfants ayant une ANA ceux qui ont les symptomes les plus graves (hypotension arterielle) ont les valeurs de tryptase les plus fortes (21,67 ± 13,77 μg/l) p

Published
2011
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5. Long term outcome of patients with Epilepsy with migrating focal seizure in infancy (EMFSI) due to KCNT1 mutation

Author

Frédéric Dubois, Nicole Chemaly, A. de Saint Martin, Catherine Sarret, Anna Kaminska, Mathieu Kuchenbuch, Fabrice Wendling, Rima Nabbout, Pascal Benquet, and Marc Gibaud

Subjects
Pediatrics, medicine.medical_specialty, Epilepsy, business.industry, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Medicine, Neurology (clinical), General Medicine, business, medicine.disease, Outcome (game theory), Term (time)
Published
2017
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6. SFP CO-39 - Protéine S100ß et traumatismes crâniens

Author

N. Meresse, N. Savy, V. Sapin, D. Bouvier, D. Sebouh, André Labbé, and Catherine Sarret

Subjects
Pediatrics, Perinatology and Child Health
Abstract

Nous avons effectue 2 travaux successifs sur la proteine S100s pour analyser son interet eventuel comme marqueur de gravite dans les traumatismes crâniens. A l’appui de ces deux travaux nous proposons de generaliser ce dosage dans les services d’urgences pediatriques. Dans la premiere etude nous avons determine les valeurs normales de cette proteine a partir d’une serotheque d’enfants de 0 a 16 ans. Nous avons pu determiner que le taux de cette proteine diminuait de la naissance a 3 ans. Dans la deuxieme etude nous avons dose cette proteine chez 446 enfants presentant un traumatisme crânien modere. Il existe une correlation significative entre le taux de cette proteine est la gravite clinique apprecie par le score de Glasgow (0,21, 0,31, et 0,44 μg /L selon qu’il appartenait a un Master 1,2 ou 3, p Le principe de la generalisation du dosage de cette proteine dans les services d’urgences au cours des traumatismes crâniens moderes merite de faire l’objet d’une discussion collegiale.

Published
2014
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