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2. Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot–Marie–Tooth presentation

Author

Claude Matuchansky, Daniel Rigaud, Violaine Planté-Bordeneuve, Laurent Bedenne, Gérard Said, Annie Nivelon-Chevallier, Catherine Lacroix, Abdelhamid Slama, Pascal Crenn, Eric Manceau, Anne Guiochon-Mantel, Bernard Messing, and Pierre Soichot

Subjects
Adult, Male, Pathology, medicine.medical_specialty, Gastrointestinal Diseases, Biopsy, DNA Mutational Analysis, Encephalopathy, Neural Conduction, Gene mutation, Nerve Fibers, Myelinated, Central nervous system disease, Microscopy, Electron, Transmission, Charcot-Marie-Tooth Disease, Mitochondrial Encephalomyopathies, Cerebellum, medicine, Humans, Retrospective Studies, Thymidine Phosphorylase, Nerve biopsy, medicine.diagnostic_test, business.industry, Muscles, Supranuclear ophthalmoplegia, medicine.disease, Magnetic Resonance Imaging, Peripheral neuropathy, Neurology, Mutation, Female, Neurology (clinical), business, Polyneuropathy
Abstract

We report on four patients with severe polyneuropathy associated with intestinal pseudoobstruction (MNGIE). Three patients presented characteristic supranuclear ophthalmoplegia, and hyperdense signals on T2 weighted cerebral MRI and dystrophic mitochondria in Schwann cells and in endothelial cells in nerve biopsy specimens. Two of these patients had a Charcot-Marie-Tooth (CMT) presentation. All three were heterozygous for a recessively transmitted double substitution in the TP gene: Glu286Lys/Glu289Ala, Asp156Gly/Leu177Pro and Glu289Ala/Gly387Asp. The fourth patient, who was the only patient of this series with an affected sib, had no oculomotor manifestations, nor T2 hyperdense signals on brain MRI, and no TP gene mutation and or morphological abnormalities of mitochondria on electron microscopic examination. He was the only patient of this series with an affected sib. The three patients with the full MNGIE syndrome died before the age of 30 years. Detailed results of nerve pathology show that severe axonal degeneration is associated with segmental abnormalities of the myelin sheath in this syndrome which appears genetically heterogeneous. Our findings suggest that only ophthalmoplegia and hyperdense signals on cerebral MRI are directly related to the mitochondriopathy.

Published
2005

3. Mazabraud syndrome in two patients: Clinical overlap with McCune-Albright syndrome

Author

Martine Lemerrer, P. Khau van Kien, Pierre Maroteaux, Valérie Cormier-Daire, C. Robinet, Arnold Munnich, Laurence Faivre, Annie Nivelon-Chevallier, Marie-Laure Kottler, and B. Lorcerie

Subjects
Adult, musculoskeletal diseases, medicine.medical_specialty, endocrine system diseases, Mazabraud syndrome, Fibrous Dysplasia, Polyostotic, McCune–Albright syndrome, Internal medicine, GTP-Binding Protein alpha Subunits, Gs, GNAS complex locus, Humans, Medicine, Abnormalities, Multiple, Genetics (clinical), Pseudohypoparathyroidism, Muscle Neoplasms, biology, business.industry, Fibrous dysplasia, Myxoma, Syndrome, medicine.disease, Activating mutation, Dermatology, Osteochondrodysplasia, Radiography, Endocrinology, biology.protein, Female, business
Abstract

Mazabraud syndrome is a rare sporadic disorder, mainly characterized by bone fibrous dysplasia and intramuscular myxomas. We report here two new cases of Mazabraud syndrome. One of our patients (Patient 1) also had café-au-lait spots and multinodular goiter suggestive of McCune-Albright syndrome. We review the 37 previously reported cases with Mazabraud syndrome and discuss the 6/37 patients with criteria of Mazabraud and McCune-Albright syndromes. Based on the clinical overlap between the two syndromes, we tested the GNAS1 gene in blood leukocytes and skin fibroblasts of Patient 1, but found no evidence of an activating mutation in the GNAS1 gene.

Published
2001

4. Unique survival in chrondrodysplasia-hermaphrodism syndrome

Author

Patrick Callier, Mondher Chouchane, Annie Nivelon-Chevallier, Laurence Faivre, Emmanuel Sapin, Francine Mugneret, Nicole Laurent, Emmanuel Garron, Frédéric Huet, Christel Thauvin-Robinet, Eric Manceau, and Christine Durand

Subjects
Genetics, Hermaphrodism, Biology, Genetics (clinical)
Published
2004

5. Prenatal diagnosis of a partial trisomy 7q in two fetuses with bilateral ventriculomegaly

Author

Annie Nivelon-Chevallier, Serge Douvier, Bernardine Favre, Philippe Khau Van Kien, Christel Robinet, Isabelle Luquet, Francine Mugneret, and Nathalie Nadal

Subjects
Gynecology, Partial Trisomy, Fetus, medicine.medical_specialty, Obstetrics, business.industry, medicine, Obstetrics and Gynecology, Prenatal diagnosis, medicine.disease, business, Genetics (clinical), Ventriculomegaly
Published
2000

6. Can Hutchinson-Gilford progeria syndrome be a neonatal condition?

Author

Laurence Faivre, F. Beer, N. Madinier-Chappat, Ph. Khau Van Kien, Annie Nivelon-Chevallier, and Martine Lemerrer

Subjects
Pediatrics, medicine.medical_specialty, Neonatal condition, business.industry, medicine, business, Hutchinson Gilford Progeria Syndrome, Genetics (clinical)
Published
1999

7. Vitamin K deficiency embryopathy

Author

Annie Nivelon-Chevallier, Philippe Khau Van Kien, Catherine Maingueneau, Serge Douvier, and Gilles Spagnolo

Subjects
medicine.medical_specialty, Endocrinology, business.industry, Internal medicine, Vitamin K deficiency, medicine, business, medicine.disease, Genetics (clinical)
Published
1998

8. Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity

Author

Henri Plauchu, Caroline Bonnet, Xavier Jeunemaitre, François Brunotte, Arnaud Dellinger, Philippe Khau Van Kien, N. Salve, Gaetan Lesca, Jean-Eric Wolf, Limin Zhu, Alain Lalande, Annie Nivelon-Chevallier, Flavie Mathieu, Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), IFR3, Université Montpellier 1 (UM1)-Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Cardiologie [CHU de Dijon], Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de génétique [CHU HEGP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Pathologie vasculaire et endocrinologie rénale - Chaire de médecine expérimentale (INSERM U36), Collège de France (CdF (institution))-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire Electronique, Informatique et Image [UMR6306] (Le2i), Université de Bourgogne (UB)-Centre National de la Recherche Scientifique (CNRS)-École Nationale Supérieure d'Arts et Métiers (ENSAM), Arts et Métiers Sciences et Technologies, HESAM Université (HESAM)-HESAM Université (HESAM)-Arts et Métiers Sciences et Technologies, HESAM Université (HESAM)-HESAM Université (HESAM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Paris-Centre de Recherche Cardiovasculaire (PARCC - UMR-S U970), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Université de Bourgogne (UB)-École Nationale Supérieure d'Arts et Métiers (ENSAM), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-Arts et Métiers Sciences et Technologies, HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Collège de France (CDF), Collège de France (CdF), Université Paris Descartes - Paris 5 (UPD5)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques, Université Montpellier 1 ( UM1 ) -IFR3-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université de Montpellier ( UM ), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Institut Mondor de Recherche Biomédicale ( IMRB ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 ( UPEC UP12 ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Européen Georges Pompidou [APHP] ( HEGP ), Collège de France ( CDF ), Collège de France ( CdF ), Laboratoire Electronique, Informatique et Image [UMR6303] ( Le2i ), Université de Bourgogne ( UB ) -École Nationale Supérieure d'Arts et Métiers ( ENSAM ) -AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Centre National de la Recherche Scientifique ( CNRS ), Paris-Centre de Recherche Cardiovasculaire ( PARCC - U970 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Hôpital Européen Georges Pompidou [APHP] ( HEGP ), Laboratoire Electronique, Informatique et Image ( Le2i ), Université de Bourgogne ( UB ) -AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Centre National de la Recherche Scientifique ( CNRS ), and Hôpital Européen Georges Pompidou [APHP] ( HEGP ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM )

Subjects
Male, Pathology, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Genetic Linkage, 030204 cardiovascular system & hematology, Thoracic aortic aneurysm, Sudden death, Familial thoracic aortic aneurysm, 03 medical and health sciences, Aortic aneurysm, Death, Sudden, 0302 clinical medicine, Ductus arteriosus, Genetic model, Genetics, medicine, [INFO.INFO-IM]Computer Science [cs]/Medical Imaging, Humans, Ductus Arteriosus, Patent, Genetics (clinical), 030304 developmental biology, Aortic dissection, 0303 health sciences, [ INFO.INFO-IM ] Computer Science [cs]/Medical Imaging, Aortic Aneurysm, Thoracic, Genetic heterogeneity, business.industry, Anatomy, medicine.disease, 3. Good health, Pedigree, Stroke, Aortic Dissection, medicine.anatomical_structure, Female, France, business, Microsatellite Repeats
Abstract

International audience; Thoracic aortic aneurysm and aortic dissection (TAA and AD) are an important cause of sudden death. Familial cases could account for 20% of all cases. A genetic heterogeneity with two identified genes (FBN1 and COL3A1) and three loci (3p24-25 or MFS2/TAAD2, 5q13-q14 and 11q23.2-24) has been shown previously. Study of a single family composed of 179 members with an abnormally high occurrence of TAA/AD disease. A total of 40 subjects from three generations were investigated. In addition to five cases of stroke and three cases of sudden death, there were four cases of AD and four cases of TAA in adults. In all, 11 cases of patent ductus arteriosus (PDA) were observed, two of which were associated with TAA and one with AD. Segregation analysis showed that the distribution of these vascular abnormalities was more likely compatible with a single genetic defect with an autosomal dominant pattern of inheritance. There were no clinical signs of Marfan, Elhers-Danlos vascular type or Char syndromes. Genetic linkage analysis was performed for seven genes or loci implicated in familial TAA/AD disease (COL3A1, FBN1, 3p24-25 or MFS2/TAAD2, 5q13-q14 and 11q23.2-q24), Char syndrome (TFAP2B) or autosomal recessive PDA (12q24). Using different genetic models, linkage with these seven loci was excluded. Familial TAA/AD with PDA is likely to be a particular heritable vascular disorder, with an as yet undiscovered Mendelian genetic basis.

Published
2004

9. Hypomandibular faciocranial dysostosis in consanguineous parents revealed by ultrasound prenatal diagnosis

Author

Annie Nivelon-Chevallier, Christine Durand, Laurence Faivre, Nicole Laurent, Christel Thauvin-Robinet, Paul Sagot, Catherine Maingueneau, Valérie Cormier-Daire, and Thierry Rousseau

Subjects
Adult, Pediatrics, medicine.medical_specialty, Hypoglossia, Micrognathism, Prenatal diagnosis, Gestational Age, Mandible, Ultrasonography, Prenatal, Craniosynostosis, Consanguinity, Fatal Outcome, Pregnancy, Retrognathia, Microstomia, medicine, Humans, Genetics (clinical), Laryngeal hypoplasia, business.industry, Craniofacial Dysostosis, Glossoptosis, Obstetrics and Gynecology, Anatomy, medicine.disease, Palpebral fissure, Female, medicine.symptom, business
Abstract

We report here the fourth case of hypomandibular faciocranial dysostosis (HFD). The diagnosis was made at birth on the association of severe retrognathia, microstomia, severe hypoglossia with glossoptosis, persistent buccopharyngeal membrane, median cleft palate, bifid uvula, down-slanting palpebral fissures, short nose with anteverted nares, laryngeal hypoplasia, and low-set ears. A severe microstomia and micrognathia were detected by ultrasound at 31 weeks of gestation. Interestingly, even though the present case exhibits many facial dysmorphic features characteristic of HFD, craniosynostosis was absent. This report suggests that craniosynostosis is not mandatory for the diagnosis of this condition. Furthermore, we present a new argument for an autosomal recessive mode of inheritance for HFD.

Published
2002

10. Diagnostic prénatal et trisomie 21 regard sur une évolution législative

Author

Annie Nivelon-Chevallier

Abstract

Quel poids notre societe souhaite-t-elle conferer aux reperes ethiques qu’elle se donne, face a l’evolution des techniques et des mentalites ? Annie Nivelon-Chevallier livre une analyse personnelle, fondee sur son experience de medecin.

Published
2006

11. Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 Truncating Mutations and Expression in Developing Brain

Author

Tania Attié-Bitach, Veronique Pingault, Eckhard Korsch, Férechté Encha-Razavi, Marc Munnes, Michel Vekemans, A. M. Holschneider, Joelle Augé, Stanislas Lyonnet, Arnold Munnich, Annie Nivelon-Chevallier, Eric Manceau, Anna Pelet, Michel Goossens, Renaud Touraine, Pierre Sarda, and Walter Doerfler

Subjects
Male, Pathology, medicine.medical_specialty, Heterozygote, Ataxia, Hirschsprung disease, SOX10, DNA Mutational Analysis, Neuroscristopathy, Biology, Autonomic Nervous System, Autosomal recessive trait, Genetics, medicine, Humans, Genetics(clinical), RNA, Messenger, Child, Genetics (clinical), In Situ Hybridization, Polymorphism, Single-Stranded Conformational, Waardenburg syndrome, Genes, Dominant, Sequence Deletion, Neurocristopathy, SOXE Transcription Factors, High Mobility Group Proteins, Infant, Newborn, Dysautonomia, Neural crest, Brain, medicine.disease, Embryo, Mammalian, Phenotype, Pedigree, DNA-Binding Proteins, Neural Crest, embryonic structures, Female, medicine.symptom, Research Article, Transcription Factors
Abstract

Waardenburg syndrome type 4 (WS4), also called Shah-Waardenburg syndrome, is a rare neurocristopathy that results from the absence of melanocytes and intrinsic ganglion cells of the terminal hindgut. WS4 is inherited as an autosomal recessive trait attributable to EDN3 or EDNRB mutations. It is inherited as an autosomal dominant condition when SOX10 mutations are involved. We report on three unrelated WS4 patients with growth retardation and an as-yet-unreported neurological phenotype with impairment of both the central and autonomous nervous systems and occasionally neonatal hypotonia and arthrogryposis. Each of the three patients was heterozygous for a SOX10 truncating mutation (Y313X in two patients and S351X in one patient). The extended spectrum of the WS4 phenotype is relevant to the brain expression of SOX10 during human embryonic and fetal development. Indeed, the expression of SOX10 in human embryo was not restricted to neural-crest–derived cells but also involved fetal brain cells, most likely of glial origin. These data emphasize the important role of SOX10 in early development of both neural-crest–derived tissues, namely melanocytes, autonomic and enteric nervous systems, and glial cells of the central nervous system.

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