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1. Maternally inherited duplication of the possible imprinted 14q31 region

Author

C Stavropoulou, M.-G. Mattei, Danielle Depetris, Cécile Mignon-Ravix, Khau Van Kien P, and Mugneret F

Subjects
Genetics, Monosomy, Karyotype, Biology, medicine.disease, Uniparental disomy, Gene duplication, medicine, Imprinting (psychology), Letters to the Editor, Genomic imprinting, Trisomy, Genetics (clinical), Chromosome 12
Abstract

The existence of parent of origin differences in the expression of some genes, a process known as genomic imprinting, has been recognised and documented over the past several years. This epigenetic marking process results in the differential expression of normal genes, depending on whether they are of maternal or paternal origin. A number of human disorders have been identified as resulting from alterations in genomic imprinting.1 One type of genetic abnormality which can unmask genomic imprinting is uniparental disomy (UPD), in which both chromosomes of one pair are inherited from one parent, with no contribution from the other.2 Distinct phenotypes exhibited by patients with maternal and paternal UPD(14) strongly suggest that at least some genes on human chromosome 14 are subject to imprinting effects.3-6 This finding is supported by studies in the mouse indicating that the distal portion of chromosome 12, recognised as a candidate imprinted region, is syntenic with human chromosome 14q.7 Nevertheless, no imprinted genes have yet been identified on chromosome 14, and the location of the imprinted region on human chromosome 14 remains unclear. Analysis of parental origin effects in human trisomy for chromosome 14q8 or monosomy for the same chromosome9makes the region 14q23-q32 a candidate region for containing imprinted genes.10 Moreover, the observation of a partial duplication of 14q in a developmentally delayed girl with minor abnormalities and her phenotypically normal father led Robin et al 11 to propose that the 14q24.3-q31 region may be imprinted. As genotype-phenotype correlations in patients with aneusomy for this region may help the identification of imprinted genes on human chromosome 14, we report here a direct 14q31 duplication observed in a child with mild developmental delay and his phenotypically normal mother. This duplication was also detected in five relatives with a normal …

Published
2001

2. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

Author

Callier , P., Aral , B., Hanna , N., Lambert , S., Dindy , H., Ragon , C., Payet , M., Collod-Béroud , Gwenaëlle, Carmignac , V., Delrue , M. A., Goizet , C., Philip , N., Busa , Tiffany, Dulac , Y., Missotte , I., Sznajer , Y., Toutain , A., Francannet , C., Megarbane , A., Julia , S., Edouard , T., Sarda , P., Amiel , J., Lyonnet , S., Cormier-Daire , V., Gilbert , B., Jacquette , A., Heron , D., Collignon , P., Lacombe , D., Morice-Picard , F., Jouk , P. S., Cusin , V., Willems , M., Sarrazin , E., Amarof , K., Coubes , C., Addor , M. C., Journel , H., Colin , E., Khau Van Kien , P., Baumann , C., Leheup , B., Martin-Coignard , D., Doco-Fenzy , M., Goldenberg , A., Plessis , G., Thevenon , J., Pasquier , L., Odent , S., Vabres , P., Huet , F., Marle , N., Mosca-Boidron , A. L., Mugneret , F., Gauthier , S., Binquet , C., Thauvin-Robinet , C., Jondeau , G., Boileau , C., Faivre , L., Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de cytogénétique (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Hôpital Ambroise Paré [AP-HP], Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de génétique médicale, Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de génétique médicale [Toulouse], CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Centre hospitalier territorial Gaston-Bourret [Nouméa], Cliniques Universitaires Saint-Luc [Bruxelles], Service de génétique [Tours], Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), CHU Clermont-Ferrand, Université Saint-Joseph de Beyrouth (USJ), Service Pédiatrique [Toulouse], CHU Toulouse [Toulouse]-Hôpital des Enfants, Service de génétique médicale [Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Arnaud de Villeneuve, Service de Génétique Médicale [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service Génétique Médicale [CHU Poitiers], Centre hospitalier universitaire de Poitiers (CHU Poitiers), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital intercommunal de Font-Pré, Département de génétique, Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble, Consultation Marfan, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bichat, Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Pierre Zobda-Quitman [CHU de la Martinique], CHU de la Martinique [Fort de France], Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), Centre hospitalier de Vannes, Service de génétique [Angers], Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Centre Hospitalier Le Mans (CH Le Mans), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Service de génétique [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre d'Investigation Clinique 1432 (Dijon) - Epidemiologie Clinique/Essais Cliniques (CIC-EC), Université de Bourgogne (UB)-Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)-Institut National de la Santé et de la Recherche Médicale (INSERM), 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-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, Service Génétique Médicale [CHU Toulouse], Institut Fédératif de Biologie (IFB), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Pôle Biologie [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Pôle Enfants [CHU Toulouse], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Lipides - Nutrition - Cancer [Dijon - U1231] ( LNC ), Université de Bourgogne ( UB ) -AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université de Bourgogne ( UB ) -AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Hôpital Ambroise Paré, Génétique Médicale et Génomique Fonctionnelle ( GMGF ), Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Université de Bordeaux ( UB ) -CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Centre de résonance magnétique biologique et médicale ( CRMBM ), Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) -Centre National de la Recherche Scientifique ( CNRS ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) -Aix Marseille Université ( AMU ), Hôpital Bretonneau-CHRU Tours, Université Saint-Joseph de Beyrouth ( USJ ), Centre Hospitalier Régional Universitaire [Montpellier] ( CHRU Montpellier ) -Hôpital Arnaud de Villeneuve, CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP), Centre hospitalier universitaire de Poitiers ( CHU Poitiers ), CHU Pitié-Salpêtrière [APHP], Université Joseph Fourier - Grenoble 1 ( UJF ) -CHU Grenoble, Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Bichat, Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement ( Inserm U781 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), CHU de la Martinique, Centre Hospitalier Universitaire Vaudois [Lausanne] ( CHUV ), Université d'Angers ( UA ) -CHU Angers, Institut de génétique humaine ( IGH ), Université de Montpellier ( UM ) -Centre National de la Recherche Scientifique ( CNRS ), Nutrition-Génétique et Exposition aux Risques Environnementaux ( NGERE ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université de Lorraine ( UL ), CHU Le MAns, CHU Rouen-Université de Rouen Normandie ( UNIROUEN ), Normandie Université ( NU ) -Normandie Université ( NU ), Institut de Génétique et Développement de Rennes ( IGDR ), Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Centre National de la Recherche Scientifique ( CNRS ) -Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre d'Investigation Clinique 1432 (Dijon) - Epidemiologie Clinique/Essais Cliniques ( CIC-EC ), Université de Bourgogne ( UB ) -Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Jonchère, Laurent, Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hopital Necker-Enfants Malades, CHU de Poitiers, and Université de Lorraine ( UL ) -Institut National de la Santé et de la Recherche Médicale ( INSERM )

Subjects
Adult, Male, musculoskeletal diseases, Comparative Genomic Hybridization, congenital, hereditary, and neonatal diseases and abnormalities, [ SDV ] Life Sciences [q-bio], Adolescent, [SDV]Life Sciences [q-bio], Sequence Analysis, DNA, Middle Aged, Marfan Syndrome, [SDV] Life Sciences [q-bio], Young Adult, X Chromosome Inactivation, Child, Preschool, Intellectual Disability, Cytogenetic Analysis, Mutation, Humans, Female, Genetic Testing, Prospective Studies, Child
Abstract

International audience; The association of marfanoid habitus (MH) and intellectual disability (ID) has been reported in the literature, with overlapping presentations and genetic heterogeneity. A hundred patients (71 males and 29 females) with a MH and ID were recruited. Custom-designed 244K array-CGH (Agilent®; Agilent Technologies Inc., Santa Clara, CA) and MED12, ZDHHC9, UPF3B, FBN1, TGFBR1 and TGFBR2 sequencing analyses were performed. Eighty patients could be classified as isolated MH and ID: 12 chromosomal imbalances, 1 FBN1 mutation and 1 possibly pathogenic MED12 mutation were found (17%). Twenty patients could be classified as ID with other extra-skeletal features of the Marfan syndrome (MFS) spectrum: 4 pathogenic FBN1 mutations and 4 chromosomal imbalances were found (2 patients with both FBN1 mutation and chromosomal rearrangement) (29%). These results suggest either that there are more loci with genes yet to be discovered or that MH can also be a relatively non-specific feature of patients with ID. The search for aortic complications is mandatory even if MH is associated with ID since FBN1 mutations or rearrangements were found in some patients. The excess of males is in favour of the involvement of other X-linked genes. Although it was impossible to make a diagnosis in 80% of patients, these results will improve genetic counselling in families.

Published
2013

3. Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech

Author

Bonnet, F., Andrieux, A, Béri-Dexheimer, D, Leheup, L, Boute, B, Manouvrier, M, Delobel, D, Copin, C., Receveur, A., Mathieu, M., Thiriez, G., Le Caignec, L, David, D, de Blois, M, Malan, M, Philippe, P., Cormier-Daire, D, Colleaux, Laurence, Flori, F, Dollfus, D, Pelletier, P, Thauvin-Robinet, C., Masurel-Paulet, P, Faivre, F, Tardieu, M., Bahi-Buisson, N., Callier, P., Mugneret, F., Edery, P., Jonveaux, P., Sanlaville, D., Andrieux, J., Beri-Dexheimer, M., Leheup, B., Boute, O., Manouvrier, S., Delobel, B., Copin, H., Le Caignec, C., David, A., de Blois, C., Malan, V., Philippe, A., Cormier-Daire, V., Flori, E., Dollfus, H., Pelletier, V., Masurel-Paulet, A., Faivre, L., CHU Bordeaux [Bordeaux], UMR 1011, Institut National de la Santé et de la Recherche Médicale (INSERM), Ouvrages hydrauliques et hydrologie (UR OHAX), Institut national de recherche en sciences et technologies pour l'environnement et l'agriculture (IRSTEA), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Laboratoire de cytogénétique (CHU de Dijon), Centre de recherche en neurosciences de Lyon (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), Service de Génétique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service de Génétique Clinique, Hôpital Femme Mère Enfant, Centre Hospitalier Universitaire de Lyon, Service de Médecine Infantile III et Génétique Clinique [CHRU Nancy], Service de Génétique clinique, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Clinique de Génétique médicale Guy Fontaine [CHRU LIlle], Laboratoire Histologie Embryologie Cytogénétique [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Imagine - Institut des maladies génétiques (IMAGINE - U1163), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Biologie du Développement de Marseille (IBDM), Aix Marseille Université (AMU)-Collège de France (CdF)-Centre National de la Recherche Scientifique (CNRS), Service de génétique médicale, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Génétique des Anomalies du Développement (GAD), Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), IFR100 - Structure fédérative de recherche Santé-STIC-Université de Bourgogne (UB), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), and 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)

Subjects
Male, Microarray, Chromosome Disorders, 0302 clinical medicine, MESH: Child, MESH: Syndrome, MESH: In Situ Hybridization, Fluorescence, Child, Genetics (clinical), Growth Disorders, In Situ Hybridization, Fluorescence, Genetics, 0303 health sciences, Comparative Genomic Hybridization, MESH: Chromosome Disorders, Syndrome, Microdeletion syndrome, MESH: Growth Disorders, Phenotype, MESH: Infant, 3. Good health, MESH: Young Adult, Child, Preschool, Female, Chromosome Deletion, Chromosomes, Human, Pair 4, Haploinsufficiency, MESH: Chromosomes, Human, Pair 4, MESH: Abnormalities, Multiple, Adolescent, MESH: Chromosome Deletion, Biology, MESH: Language Development Disorders, MESH: Intellectual Disability, 03 medical and health sciences, Young Adult, Gene mapping, Intellectual Disability, medicine, Humans, Abnormalities, Multiple, Language Development Disorders, Genetically modified animal, 030304 developmental biology, MESH: Adolescent, MESH: Humans, MESH: Child, Preschool, Infant, medicine.disease, MESH: Male, Developmental disorder, MESH: Comparative Genomic Hybridization, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, MESH: Female, 030217 neurology & neurosurgery, Comparative genomic hybridization
Abstract

International audience; BACKGROUND Genome-wide screening of large patient cohorts with mental retardation using microarray-based comparative genomic hybridisation (array-CGH) has recently led to identification several novel microdeletion and microduplication syndromes. METHODS Owing to the national array-CGH network funded by the French Ministry of Health, shared information about patients with rare disease helped to define critical intervals and evaluate their gene content, and finally determine the phenotypic consequences of genomic array findings. RESULTS In this study, nine unrelated patients with overlapping de novo interstitial microdeletions involving 4q21 are reported. Several major features are common to all patients, including neonatal muscular hypotonia, severe psychomotor retardation, marked progressive growth restriction, distinctive facial features and absent or severely delayed speech. The boundaries and the sizes of the nine deletions are different, but an overlapping region of 1.37 Mb is defined; this region contains five RefSeq genes: PRKG2, RASGEF1B, HNRNPD, HNRPDL and ENOPH1. DISCUSSION Adding new individuals with similar clinical features and 4q21 deletion allowed us to reduce the critical genomic region encompassing two genes, PRKG2 and RASGEF1B. PRKG2 encodes cGMP-dependent protein kinase type II, which is expressed in brain and in cartilage. Information from genetically modified animal models is pertinent to the clinical phenotype. RASGEF1B is a guanine nucleotide exchange factor for Ras family proteins, and several members have been reported as key regulators of actin and microtubule dynamics during both dendrite and spine structural plasticity. CONCLUSION Clinical and molecular delineation of 4q21 deletion supports a novel microdeletion syndrome and suggests a major contribution of PRKG2 and RASGEF1B haploinsufficiency to the core phenotype.

Published
2010

5. Two cases of terminal deletion of chromosome 13: clinical features, conventional and molecular cytogenetic analysis

Author

Luquet I, Favre B, Nadal N, Madinier N, Philippe KHAU VAN KIEN, Huet F, Nivelon-Chevallier A, and Mugneret F

Subjects
Craniofacial Abnormalities, Male, Chromosomes, Human, Pair 13, Child, Preschool, Intellectual Disability, Karyotyping, Humans, Female, Gene Deletion, In Situ Hybridization, Fluorescence, Chromosome Banding
Abstract

We report the cases of two unrelated patients with psychomotor retardation and craniofacial abnormalities, in whom cytogenetic studies have revealed a terminal deletion of chromosome 13 confirmed by fluorescence in situ hybridization (FISH). This del(13)(q33.2) is the smallest terminal deletion of the 13q reported so far. Interestingly enough, the serum level of coagulation factors VII and X, whose genes are located in 13q34, were reduced in both patients. These cases illustrate the difficulties in identifying precisely chromosome deletions and demonstrate that FISH techniques allow to obtain a more precise correlation between clinical phenotype and cytogenetic abnormalities.

Published
1999

6. Prolonged remission and autologous recovery in two patients with chronic myelogenous leukemia after graft failure of allogeneic bone marrow transplantation

Author

Patrick Hervé, M. Deschaseaux, Eric Deconinck, Eric Solary, Mugneret F, Jean-Yves Cahn, Pierre Tiberghien, Loic Fouillard, and Annie Brion

Subjects
Adult, Male, medicine.medical_specialty, Time Factors, Chromosomal translocation, Philadelphia chromosome, Polymerase Chain Reaction, Transplantation, Autologous, Graft vs Host Reaction, hemic and lymphatic diseases, Leukemia, Myelogenous, Chronic, BCR-ABL Positive, medicine, Humans, Transplantation, Homologous, Lymphocytes, Progenitor cell, Apolipoproteins B, Bone Marrow Transplantation, DNA Primers, Transplantation, Base Sequence, business.industry, Hematology, medicine.disease, Hematopoietic Stem Cells, Surgery, Hematopoiesis, Regimen, Haematopoiesis, medicine.anatomical_structure, Bone marrow, Stem cell, business, Chronic myelogenous leukemia
Abstract

Two patients with Philadelphia-positive chronic myelogenous leukemia underwent allogeneic bone marrow transplantation from a related HLA mismatched donor (patient 1) or from an unrelated HLA-identical donor (patient 2). Following bone marrow transplantation partial engraftment (patient 1) or graft failure (patient 2) occurred followed by autologous Philadelphia negative hematopoietic recovery either spontaneously (patient 1) or after infusion of autologous bone marrow rescue (patient 2). Neither Philadelphia chromosome, nor bcr-abl rearrangement was detectable by PCR analysis up to 7 years (patient 1) and 9 years (patient 2) post-transplantation. These two observations indicate that sustained engraftment of allogeneic bone marrow stem cells following a myeloablative regimen is not necessary to cure chronic myelogenous leukemia. It is hypothesized that the proliferative advantage of Philadelphia-negative progenitors and the anti-leukemic effect of lymphocytes in the graft have resulted in prolonged remission of the patients.

Published
1998

8. Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region

Author

Dahl, N, Hu, L, Chery, M, Fardeau, M, Gilgenkrantz, S, Nivelon-Chevallier, A, Sidaner-Noisette, I, Mugneret, F, Gouyon, J, Gal, A, Kioschis, Petra, d'Urso, M., Mandel, Jean-Louis, Laboratoire de Biologie structurale, Institut National de la Santé et de la Recherche Médicale (INSERM), and univOAK, Archive ouverte

Subjects
Adult, MESH: Muscles, congenital, hereditary, and neonatal diseases and abnormalities, X Chromosome, MESH: Pedigree, In Vitro Techniques, MESH: Chromosomes, Human, Muscular Diseases, Dosage Compensation, Genetic, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Chromosomes, Human, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, MESH: Sex Chromosome Aberrations, Sex Chromosome Aberrations, Sequence Deletion, MESH: In Vitro Techniques, MESH: X Chromosome, MESH: Humans, Muscles, MESH: Muscular Diseases, Chromosome Mapping, Infant, MESH: Adult, Original Articles, MESH: Sequence Deletion, MESH: Infant, MESH: Dosage Compensation, Genetic, Chromosome Banding, Pedigree, MESH: Karyotyping, Karyotyping, MESH: DNA Probes, MESH: Chromosome Banding, Female, MESH: Chromosome Mapping, DNA Probes, MESH: Female
Abstract

International audience; A young girl with a clinically moderate form of myotubular myopathy was found to carry a cytogenetically detectable deletion in Xq27-q28. The deletion had occurred de novo on the paternal X chromosome. It encompasses the fragile X (FRAXA) and Hunter syndrome (IDS) loci, and the DXS304 and DXS455 markers, in Xq27.3 and proximal Xq28. Other loci from the proximal half of Xq28 (DXS49, DXS256, DXS258, DXS305, and DXS497) were found intact. As the X-linked myotubular myopathy locus (MTM1) was previously mapped to Xq28 by linkage analysis, the present observation suggested that MTM1 is included in the deletion. However, a significant clinical phenotype is unexpected in a female MTM1 carrier. Analysis of inactive X-specific methylation at the androgen receptor gene showed that the deleted X chromosome was active in approximately 80% of leukocytes. Such unbalanced inactivation may account for the moderate MTM1 phenotype and for the mental retardation that later developed in the patient. This observation is discussed in relation to the hypothesis that a locus modulating X inactivation may lie in the region. Comparison of this deletion with that carried by a male patient with a severe Hunter syndrome phenotype but no myotubular myopathy, in light of recent linkage data on recombinant MTM1 families, led to a considerable refinement of the position of the MTM1 locus, to a region of approximately 600 kb, between DXS304 and DXS497.

Published
1995

9. Molecular analysis of T-cell receptor transcripts in a human T-cell leukemia bearing a t(1;14) and an inv(7); cell surface expression of a TCR-beta chain in the absence of alpha chain

Author

Olivier Bernard, Groettrup M, Mugneret F, Berger R, and Azogui O

Subjects
Adult, Chromosomes, Human, Pair 14, Male, Base Sequence, Transcription, Genetic, Receptors, Antigen, T-Cell, alpha-beta, Molecular Sequence Data, Gene Expression, DNA, Neoplasm, Gene Rearrangement, T-Lymphocyte, Translocation, Genetic, Blotting, Southern, Phenotype, Chromosomes, Human, Pair 1, Chromosome Inversion, Humans, Leukemia-Lymphoma, Adult T-Cell, Amino Acid Sequence, RNA, Neoplasm, Chromosomes, Human, Pair 7
Abstract

The polymerase chain reaction (PCR) was used to amplify cDNA in order to characterize normal and hybrid T-cell receptor (TCR) gene rearrangements derived from a T-cell acute lymphoblastic leukemia (T-ALL) bearing a chromosome 7 inversion. The nucleotide sequence analysis of the amplified product showed the presence of an out-of-frame V beta/J gamma/C gamma transcript and an in-frame V gamma/J gamma/C beta transcript which result from an interlocus recombination between the TCR-beta and gamma loci and the transcription of the reciprocal hybrid TCR gene. The sequence analysis of the reciprocal DNA segment directly involved in the breakpoint of the inversion showed a recombination between a J gamma-sequence heptamer signal and a coding J beta gene segment. The exonuclease nibbling of each DNA extremity and the non-templated nucleotide insertion observed at both coding and reciprocal joints demonstrate that the inversion is mediated by the lymphocyte recombinase complex. During T-cell differentiation, TCR-beta genes are rearranged prior to TCR-alpha genes. In the present case of T-ALL, we have shown that TCR-delta genes are rearranged at both loci, excluding productive rearrangements of TCR-alpha genes. The molecular analysis of the normal TCR genes derived from the leukemic cells revealed the presence of productively rearranged TCR-beta, gamma, and delta genes. Cell surface staining of these cells showed the presence of CD3 molecules and of a TCR-beta chain corresponding to the normal beta allele expressed in a disulfide-linked complex with a protein which is not TCR-alpha, gamma, or delta. This could represent the cell surface expression of the hybrid TCR-V gamma/C beta protein or the expression of a TCR-beta homodimer.

Published
1993

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