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1. A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

Author

François Vialard, Eva Pipiras, Pascale Kleinfinger, Dominique Martin-Coignard, Marie Catty, Elisabeth Flori, Emilie Landais, Mylène Valduga, Marie-France Portnoï, Aline Receveur, Agnès Choiset, Ghislaine Plessis, Nathalie Le Meur, Audrey Basinko, Justine Besseau-Ayasse, James Lespinasse, Radu Harbuz, Céline Poirsier, Martine Doco-Fenzy, Pascaline Letard, Caroline Schluth-Bolard, Anne Bazin, Jérôme Toutain, Fabienne Prieur, Florence Amblard, Cédric Le Caignec, Tiffany Busa, Marie Christine de Blois, Melanie Jimenez, Patrick Callier, Chantal Missirian, Céline Pebrel-Richard, Paul Kuentz, Catherine Yardin, François Cartault, Hakima Lallaoui, Service de génétique [Reims], Centre Hospitalier Universitaire de Reims (CHU Reims), UVSQ - Département de maïeutique (UVSQ Maïeutique), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), 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), CHU Bordeaux [Bordeaux], 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), 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), Centre hospitalier universitaire de Nantes (CHU Nantes), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de Génétique [CHU Caen], CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Université de Caen Normandie (UNICAEN), Normandie Université (NU), Génétique moléculaire et génétique épidémiologique, Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM), Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de cytogénétique, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Laboratoire d'Ingénierie des Systèmes Biologiques et des Procédés (LISBP), Centre National de la Recherche Scientifique (CNRS)-Institut National des Sciences Appliquées - Toulouse (INSA Toulouse), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Recherche Agronomique (INRA), Laboratoire de cytogénétique et génétique moléculaire [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service de Génétique, Centre Hospitalier Universitaire de Reims (CHU Reims)-Hôpital Maison Blanche-IFR 53, Université de Reims Champagne-Ardenne (URCA)-Université de Reims Champagne-Ardenne (URCA), Service de génétique, Centre hospitalier Félix Guyon, Bellepierre, Département de Génétique Chromosomique, Bâtiment Hôtel Dieu - Centre Hospitalier de Chambéry, Laboratoire de génétique médicale et cytogénétique [Le Mans], 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), CHU Clermont-Ferrand, Service de Génétique et d'Embryologie Médicales [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Trousseau [APHP], Service d'histologie, embryologie et cytogénétique [Béclère], Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Antoine Béclère, Département de génétique et procréation, Université Joseph Fourier - Grenoble 1 (UJF)-Hôpital Couple-Enfant, Service d'Histologie, cytologie, cytogénétique, biologie cellulaire [CHU Limoges], CHU Limoges, Activité Motrice et Adaptation PsychoPhysiologique (AMAPP), Université d'Orléans (UO), Service de génétique [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Service Histologie-embryologie-cytogénétique, Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Jean Verdier [Bondy], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Laboratoire Pasteur Cerba, Laboratoire de Cytogénétique, CHI Poissy-Saint-Germain, Service de gynécologie et obstétrique [CHI Poissy-Saint Germain], Université de Versailles Saint-Quentin-en-Yvelines - UFR Sciences de la santé Simone Veil (UVSQ Santé), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), 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 Pasteur [Paris] (IP)-Laboratoire CERBA [Saint Ouen l'Aumône], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Recherche Agronomique (INRA)-Institut National des Sciences Appliquées - Toulouse (INSA Toulouse), Institut National des Sciences Appliquées (INSA)-Université de Toulouse (UT)-Institut National des Sciences Appliquées (INSA)-Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Antoine Béclère [Clamart], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Jean Verdier [AP-HP], Association des Cytogénéticiens de Langue Française, Gamètes, implantation, gestation (GIG), 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), Institut Pasteur [Paris]-Laboratoire CERBA [Saint Ouen l'Aumône], Service de génétique et embryologie médicales [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris 13 (UP13)-Hôpital Jean Verdier [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris 13 (UP13)-Hôpital Jean Verdier [Bondy]

Subjects
Adult, Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, 22q11 Deletion Syndrome, Adolescent, [SDV]Life Sciences [q-bio], Population, Article, 03 medical and health sciences, Intellectual disability, Genetics, medicine, Humans, Genetic Testing, Child, education, ComputingMilieux_MISCELLANEOUS, In Situ Hybridization, Fluorescence, Genetics (clinical), Comparative Genomic Hybridization, Fetus, education.field_of_study, business.industry, Incidence (epidemiology), Infant, Newborn, Cytogenetics, Infant, Microdeletion syndrome, medicine.disease, 3. Good health, 030104 developmental biology, Child, Preschool, Cohort, Paternal Inheritance, Female, France, business, Comparative genomic hybridization
Abstract

Although 22q11.2 deletion syndrome (22q11.2DS) is the most recurrent human microdeletion syndrome associated with a highly variable phenotype, little is known about the condition's true incidence and the phenotype at diagnosis. We performed a multicenter, retrospective analysis of postnatally diagnosed patients recruited by members of the Association des Cytogénéticiens de Langue Française (the French-Speaking Cytogeneticists Association). Clinical and cytogenetic data on 749 cases diagnosed between 1995 and 2013 were collected by 31 French cytogenetics laboratories. The most frequent reasons for referral of postnatally diagnosed cases were a congenital heart defect (CHD, 48.6%), facial dysmorphism (49.7%) and developmental delay (40.7%). Since 2007 (the year in which array comparative genomic hybridization (aCGH) was introduced for the routine screening of patients with intellectual disability), almost all cases have been diagnosed using FISH (96.1%). Only 15 cases (all with an atypical phenotype) were diagnosed with aCGH; the deletion size ranged from 745 to 2904 kb. The deletion was inherited in 15.0% of cases and was of maternal origin in 85.5% of the latter. This is the largest yet documented cohort of patients with 22q11.2DS (the most commonly diagnosed microdeletion) from the same population. French cytogenetics laboratories diagnosed at least 108 affected patients (including fetuses) per year from among a national population of ∼66 million. As observed for prenatal diagnoses, CHDs were the most frequently detected malformation in postnatal diagnoses. The most common CHD in postnatal diagnoses was an isolated septal defect.

Published
2015
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2. Contiguous Gene Deletion within Chromosome Arm 10q Is Associated with Juvenile Polyposis of Infancy, Reflecting Cooperation between the BMPR1A and PTEN Tumor-Suppressor Genes

Author

Olivier Goulet, Claude Houdayer, Marie Christine De Blois, Jean Pierre Fryns, Dominique Stoppa-Lyonnet, Damien Sanlaville, Stanislas Lyonnet, Charis Eng, Michel Vekemans, Capucine Delnatte, J. F. Mougenot, Joris Vermeesch, Serge Romana, David Geneviève, and Francis Jaubert

Subjects
Male, medicine.medical_specialty, Tumor suppressor gene, Molecular Sequence Data, Biology, Contiguous gene syndrome, Germline, Germline mutation, Report, Genetics, medicine, Humans, PTEN, Genes, Tumor Suppressor, Genetics(clinical), Juvenile polyposis syndrome, Letter to the Editor, Bone Morphogenetic Protein Receptors, Type I, Germ-Line Mutation, Genetics (clinical), Base Sequence, Chromosomes, Human, Pair 10, Intestinal Polyposis, PTEN Phosphohydrolase, Infant, medicine.disease, BMPR1A, Child, Preschool, biology.protein, Medical genetics, Gene Deletion
Abstract

We describe four unrelated children who were referred to two tertiary referral medical genetics units between 1991 and 2005 and who are affected with juvenile polyposis of infancy. We show that these children are heterozygous for a germline deletion encompassing two contiguous genes, PTEN and BMPR1A. We hypothesize that juvenile polyposis of infancy is caused by the deletion of these two genes and that the severity of the disease reflects cooperation between these two tumor-suppressor genes.

Published
2006
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3. Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review

Author

Claire de Barace, Jeanne Amiel, Annick Toutain, Alain Verloes, Christèle Dubourg, Laila El Khattabi, Sylvie Jaillard, Laurent Pasquier, Eva Pipiras, Louise Devisme, JM Pinard, Florence Demurger, Dominique P. Germain, Pascale Marcorelles, Marie-Christine de Blois, Valérie Malan, Yline Capri, Loïc de Pontual, Joris Andrieux, Josette Lucas, Catherine Vincent-Delorme, Azzedine Aboura, Marc-Antoine Belaud-Rotureau, Abdelmadjid Benmansour, Laurence Perrin, Nathalie Le Dû, Catherine Henry, Aziza Lebbar, Hubert Journel, Anne-Claude Tabet, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut de Génétique et Développement de Rennes (IGDR), 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 ), Service de Cytogénétique et de Biologie Cellulaire, Université de Rennes (UR)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Laboratoire de Génétique Clinique, Hôpital Jeanne de Flandre [Lille]-Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU Pontchaillou [Rennes], Département de génétique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Chercheur indépendant, Service de génétique [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Service d'Anatomie Pathologique, Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Centre de Maladies Rares, Anomalies du Développement Nord de France-CH Arras - CHRU Lille, Génétique Médicale, Centre hospitalier Bretagne Atlantique (Morbihan) (CHBA)-Hôpital Chubert, CHU de Saint-Brieuc, Pôle de Pathologie, Centre de Biologie Pathologie, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de biologie moléculaire, Hôpital Pontchaillou, 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 Necker - Enfants Malades [AP-HP], Hôpital Jean Verdier [AP-HP], Hôpital Raymond Poincaré [AP-HP], Service de neurologie pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Raymond Poincaré [AP-HP], Service Histologie-embryologie-cytogénétique, Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Jean Verdier [AP-HP], Physiopathologie et neuroprotection des atteintes du cerveau en développement, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), 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), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Jonchère, Laurent, Institut Cochin ( UM3 (UMR 8104 / U1016) ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), CHU Cochin [AP-HP], 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 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Hôpital Jeanne de Flandre [Lille]-Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 ( UPD7 ), Hôpital Bretonneau-CHRU Tours, Centre Hospitalier Régional Universitaire de Brest ( CHRU Brest ), Centre Hospitalier Bretagne Atlantique-Hôpital Chubert, CHU Saint Brieuc, Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), 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 Jean Verdier, AP-HP Hôpital Raymond Poincaré [Garches], Assistance publique - Hôpitaux de Paris (AP-HP)-AP-HP Hôpital Raymond Poincaré [Garches], Université Paris 13 ( UP13 ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Jean Verdier, Université Paris Diderot - Paris 7 ( UPD7 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), and 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 )

Subjects
Male, Microcephaly, Adolescent, Developmental Disabilities, [SDV]Life Sciences [q-bio], Isochromosome, isochromosome, Germline mosaicism, Trisomy, tetrasomy 9p, Biology, 03 medical and health sciences, Genetic Heterogeneity, Fetus, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Supernumerary, Abnormalities, Multiple, Hypertelorism, Child, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, Oligonucleotide Array Sequence Analysis, 0303 health sciences, [ SDV ] Life Sciences [q-bio], 030305 genetics & heredity, Chromosome, Syndrome, medicine.disease, Aneuploidy, 3. Good health, Chromosome Banding, [SDV] Life Sciences [q-bio], Phenotype, mosaicism, Child, Preschool, Karyotyping, Female, Tetrasomy 9p, medicine.symptom, Chromosomes, Human, Pair 9, microarray
Abstract

International audience; Tetrasomy 9p is a generic term describing the presence of a supernumerary chromosome incorporating two copies of the 9p arm. Two varieties exist: isodicentric chromosome 9p (i(9p)), where the two 9p arms are linked by a single centromeric region, and pseudodicentric 9p (idic(9p)), where one active and one inactive centromere are linked together by a proximal segment of 9q that may incorporate euchromatic material. In living patients, i(9p) and idic(9p) are usually present in a mosaic state. Fifty-four cases, including fetuses, have been reported, of which only two have been molecularly characterized using array-CGH. Tetrasomy 9p leads to a variable phenotype ranging from multiple congenital anomalies with severe intellectual disability and growth delay to subnormal cognitive and physical developments. Hypertelorism, abnormal ears, microretrognathia and bulbous nose are the most common dysmorphic traits. Microcephaly, growth retardation, joint dislocation, scoliosis, cardiac and renal anomalies were reported in several cases. Those physical anomalies are often, but not universally, accompanied by intellectual disability. The most recurrent breakpoints, defined by conventional cytogenetics, are 9p10, 9q12 and 9q13. We report on 12 new patients with tetrasomy 9p (3 i(9p), 8 idic(9p) and one structurally uncharacterized), including the first case of parental germline mosaicism. All rearrangements have been characterized by DNA microarray. Based on our results and a review of the literature, we further delineate the prenatal and postnatal clinical spectrum of this imbalance. Our results show poor genotype-phenotype correlations and underline the need of precise molecular characterization of the supernumerary marker. © 2015 Wiley Periodicals, Inc

Published
2015
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4. Identification of the IRXB gene cluster as candidate genes in severe dysgenesis of the ocular anterior segment

Author

M. Chaabouni, Heather C. Etchevers, Serge Romana, Marie Christine Waill-Perrier, Michel Vekemans, Patrick Calvas, and Marie Christine De Blois

Subjects
Candidate gene, Chromosomal rearrangement, Biology, Severity of Illness Index, Translocation, Genetic, Dysgenesis, Anterior Eye Segment, Gene cluster, medicine, Humans, Eye Abnormalities, Gene, In Situ Hybridization, Fluorescence, Genetics, Homeodomain Proteins, medicine.diagnostic_test, Breakpoint, Infant, Chromosome Breakage, Molecular biology, Chromosomes, Human, Pair 2, Female, PAX6, Chromosomes, Human, Pair 16, Fluorescence in situ hybridization, Transcription Factors
Abstract

PURPOSE Anterior segment ocular dysgenesis (ASOD) is a broad heterogeneous group of diseases detectable at the clinical and molecular level. In a patient with bilateral congenital ASOD including aniridia and aphakia, a complex chromosomal rearrangement, inv(2)(p22.3q12.1)t(2;16)(q12.1;q12.2), was characterized at the molecular level, to identify candidate genes implicated in ASOD. METHODS After negative sequencing of the PAX6, FOXC1, and PITX2 genes, we used fluorescence in situ hybridization (FISH) and Southern blot analysis to characterize the chromosomal breakpoints. Candidate genes were selected, and in situ tissue expression analysis was performed on human fetuses and embryos. RESULTS Molecular analyses showed that the 16q12.2 breakpoint in this rearrangement occurs in a 625-bp region centromeric to the IRX3 gene, which belongs to the IRXB cluster. In situ hybridization expression studies showed that during early human embryonic development, the IRX3 gene is expressed in the anterior segment of the eye. Of interest, it has been shown previously that a highly conserved noncoding region (HCNCR) is located 300 kb centromeric to the IRX3 gene and induces, in a murine transgenic assay, an expression pattern fitting that of the IRX3 gene. CONCLUSIONS The authors propose that the 16q12.2 breakpoint of this complex translocation is causally related to the ocular anterior segment dysgenesis observed in this patient. This translocation is assumed to separate the HCNCR from the IRXB cluster genes, thus deregulating the IRXB cluster and leading to the ASOD observed by a positional effect.

Published
2010

5. Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome

Author

Céline Bernardin, Arnold Munnich, Jeanne Amiel, Fabienne Prieur, Damien Sanlaville, Clarisse Baumann, Martine Le Merrer, Michel Vekemans, Philippe Parent, Marguerite Prieur, Catherine Turleau, Marion Gérard, Bénédicte Gérard, Stanislas Lyonnet, Marie-Christine de Blois, Valérie Cormier-Daire, David Geneviève, Odile Raoul, Géraldine Viot, Annick Toutain, Alain Verloes, and Serge Romana

Subjects
Male, Pathology, medicine.medical_specialty, Chromosomes, Artificial, Bacterial, Developmental Disabilities, Kabuki, Cardiovascular Abnormalities, Niikawa-Kuroki Syndrome, Biology, White People, Craniofacial Abnormalities, Intellectual Disability, Gene duplication, Genetics, medicine, Humans, In patient, Abnormalities, Multiple, Child, Genetics (clinical), In Situ Hybridization, Fluorescence, Chromosomal inversion, Chromosome Aberrations, Syndrome, medicine.disease, Dysplasia, Female, Kabuki syndrome, Comparative genomic hybridization, Chromosomes, Human, Pair 8
Abstract

Kabuki syndrome (KS) is a rare MCA/MR syndrome with an estimated frequency of 1/32 000 in Japan. This syndrome is characterized by postnatal growth retardation, distinctive facial features, dermatoglyphic anomalies, skeletal dysplasia, and mental retardation. The molecular basis of KS remains unknown. Recently, Milunsky and Huang reported on six unrelated patients with a clinical diagnosis of KS and an 8p22-8p23.1 duplication using comparative genomic hybridization and BAC-FISH studies. Also, they suggested that a paracentric inversion may contribute to the occurrence of KS. In the present study, 24 patients with a clinical diagnosis of KS based on Niikawa-Kuroki criteria have been collected. They were tested for the presence of an 8p duplication using the same clones as described by Milunsky and Huang. Our results do not confirm the previously described association between KS and an 8p22-8p23.1 duplication.

Published
2005

6. Functional disomy of the Xq28 chromosome region

Author

Marie-Christine de Blois, Jean-Michel Lapierre, Monique Picq, Nicole Morichon-Delvallez, Marguerite Prieur, Arnold Munnich, Catherine Turleau, David Geneviève, Catherine Ozilou, Michel Vekemans, Valérie Cormier-Daire, Philippe Gosset, Geneviève Baujat, Damien Sanlaville, and Serge Romana

Subjects
Genetics, Male, congenital, hereditary, and neonatal diseases and abnormalities, Chromosomes, Human, X, Autosome, Derivative chromosome, Chromosomes, Human, Pair 10, Infant, Chromosomal translocation, Karyotype, Biology, Aneuploidy, Translocation, Genetic, Xq28, Chromosome regions, Karyotyping, Humans, Abnormalities, Multiple, Female, Chromosomes, Human, Pair 4, Chromosome 21, Genetics (clinical), X chromosome
Abstract

We report on two patients, a boy and a girl, with an additional Xq28 chromosome segment translocated onto the long arm of an autosome. The karyotypes were 46,XY,der(10)t(X;10)(q28;qter) and 46,XX,der(4)t(X;4)(q28;q34), respectively. In both cases, the de novo cryptic unbalanced X-autosome translocation resulted in a Xq28 chromosome functional disomy. To our knowledge, at least 17 patients with a distal Xq chromosome functional disomy have been described in the literature. This is the third report of a girl with an unbalanced translocation yielding such a disomy. When the clinical features of both patients are compared to those observed in patients reported in the literature, a distinct phenotype emerges including severe mental retardation, facial dysmorphic features with a wide face, a small mouth and a thin pointed nose, major axial hypotonia, severe feeding problems and proneness to infections. A clinically oriented FISH study using subtelomeric probes is necessary to detect such a cryptic rearrangement.

Published
2005

7. Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature

Author

Michel Vekemans, Catherine Turleau, Laurence Faivre, Irina Giurgea, Arnold Munnich, Jeanne Amiel, Marguerite Prieur, Valérie Cormier-Daire, Laurent Pasquier, Serge Romana, Philippe Gosset, Sylvie Odent, M.C. Nassogne, and Marie-Christine de Blois

Subjects
Male, Chromosomal translocation, Trisomy, Biology, Translocation, Genetic, Receptor, IGF Type 1, Chromosome 15, Gene duplication, Genetics, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), In Situ Hybridization, Fluorescence, Insulin-like growth factor 1 receptor, Chromosomes, Human, Pair 15, Macrocephaly, medicine.disease, IGF1R Gene, Phenotype, Pedigree, body regions, Female, medicine.symptom
Abstract

Overgrowth is rarely associated with chromosomal imbalances. Here we report on four children from two unrelated families presenting with overgrowth and a terminal duplication of the long arm of chromosome 15 diagnosed using cytogenetic and FISH studies. In both cases, chromosome analysis of the parents showed a balanced translocation involving 15q26.1-qter. Molecular and cytogenetic studies showed three copies of the insulin-like growth factor 1 receptor (IGF1R) gene. This finding suggests that overgrowth observed in our patients might be causally related to a dosage effect of the IGF1R gene, in contrast to severe growth retardation observed in patients with terminal deletion of 15q. The present observation emphasises the importance of chromosome analysis in patients with overgrowth and mental retardation. Moreover, it further delineates a specific phenotype related to trisomy 15q26.1-qter with macrosomia at birth, overgrowth, macrocephaly and mild developmental delay being the major clinical features.

Published
2002

8. A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation

Author

Laurence Colleaux, Séverine Moindrault, Martine Le Merrer, Odile Raoult, Solange Heuertz, Valérie Cormier-Daire, Stanislas Lyonnet, François Cornelis, Marguerite Prieur, Monique Picq, Philippe Gosset, Catherine Ozilou, Marlène Rio, Serge Romana, Marie-Christine de Blois, Catherine Turleau, Arnold Munnich, Jeanne Amiel, Michel Vekemans, Handicaps génétiques de l'enfant (Inserm U393), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Génopole [Evry], Université d'Évry-Val-d'Essonne (UEVE), Laboratoire Histologie Embryologie Cytogénétique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Génétique Médicale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], This work was supported by Centre National de la Recherche Scientifique and by Fondation pour la Recherche Médicale, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP]

Subjects
Male, Non-Mendelian inheritance, MESH: Genetic Markers, Translocation, Genetic, MESH: Genotype, Monosomy, 0302 clinical medicine, MESH: Child, Child, Genetics (clinical), Gene Rearrangement, Genetics, 0303 health sciences, MESH: Genetic Testing, 030305 genetics & heredity, Telomere, Subtelomere, MESH: Monosomy, MESH: Translocation, Genetic, Pedigree, Cytogenetic Analysis, Microsatellite, %22">Fish , Chromosomes, Human, Pair 6, Female, Genetic Markers, Genotype, MESH: Chromosomes, Human, Pair 6, MESH: Pedigree, MESH: Gene Rearrangement, Biology, MESH: Intellectual Disability, 03 medical and health sciences, Intellectual Disability, Humans, Genetic Testing, Genotyping, MESH: Humans, Chromosomes, Human, Pair 10, MESH: Cytogenetic Analysis, MESH: Male, MESH: Karyotyping, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Genetic marker, MESH: Chromosomes, Human, Pair 10, Karyotyping, MESH: Telomere, MESH: Female, Chromosomes, Human, Pair 16, 030217 neurology & neurosurgery, Uniparental Disomies, MESH: Chromosomes, Human, Pair 16
Abstract

International audience; Cryptic unbalanced subtelomeric rearrangements are known to cause a significant proportion of idiopathic mental retardation in childhood. Because of the limited sensitivity of routine analyses, the cytogenetic detection of such rearrangements requires molecular techniques, namely FISH and comparative genomic hybridisation (CGH). An alternative approach consists in using genetic markers to detect segmental aneusomy. Here, we describe a new strategy based upon automated fluorescent genotyping to search for non mendelian segregation of telomeric microsatellites. A total of 29 individuals belonging to 24 unrelated families were screened and three abnormal patterns of segregation were detected (two rearrangements and one parental disomy). This study gives strong support to the view that cryptic telomeric rearrangements significantly contribute to idiopathic mental retardation and demonstrates that fluorescent genotyping is a very sensitive and cost-effective method to detect deletions, duplications and uniparental disomies.

Published
2001
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9. Reply to Salviati et al

Author

Dominique Stoppa-Lyonnet, Charis Eng, Capucine Delnatte, J. F. Mougenot, Michel Vekemans, Stanislas Lyonnet, Jean Pierre Fryns, Marie Christine De Blois, Damien Sanlaville, Claude Houdayer, Joris Vermeesch, Francis Jaubert, David Geneviève, Olivier Goulet, and Serge Romana

Subjects
Genetics, Candidate gene, biology, business.industry, Point mutation, information science, Disease, Bioinformatics, Phenotype, BMPR1A, biology.protein, Medicine, PTEN, natural sciences, Genetics(clinical), Allele, Haploinsufficiency, business, Letter to the Editor, Genetics (clinical)
Abstract

To the Editor: In this issue, Salviati and colleagues report the case of an 8-year-old girl whose mild developmental delay and dysmorphic features led them to perform a high-resolution karyotype.1 A 12-Mb deletion located in 10q23 and encompassing the PTEN and BMPR1A loci was detected. The child presented with rectal bleeding at age 5 years. Colonoscopy at age 6 years uncovered >15 hamartomatous polyps throughout the entire colon, allowing the diagnosis of juvenile polyposis (JP). By operational definition, JP in patients younger than 6 years may be classified as “JP of infancy.” Thus, the rectal bleeding in this child at age 5 years was almost certainly due to the juvenile polyps uncovered only the following year; therefore, this case corroborates our report.2 However, the presentation and the disease course of the patient reported by Salviati et al.1 were not as severe as those of the four patients reported in our recent study2 and about which we hypothesize that the cooperation of the deletions of both tumor-suppressor genes PTEN and BMPR1A leads to severe JP and, hence, to cases of JP of infancy. The report by Salviati and colleagues1 is very interesting, illustrating that a very large deletion (12 Mb, compared with 2 Mb in patients 1 and 2 in our report2 and ∼4.8 Mb in the patient reported by Tsuchiya et al.3) may be, paradoxically, associated with a less severe disease course than a small deletion or a point mutation. As proposed by Salviati and colleagues,1 the protective effect of a modifier allele of a gene unlinked to the PTEN and BMPR1A genes may explain this phenomenon even if, at the present time, no candidate gene is suggested. Another explanation for this milder phenotype may be the increased expression level of the PTEN and BMPR1A genes by the remaining allele, which thus allows correction of the haploinsufficiency. Indeed, evidence is accumulating that allelic-specific expression is relatively common among nonimprinted autosomal genes and may be due to cis-acting, genetically inherited variations.4 Because of the very large size of the 10q22.3-q23 deletion in the patient reported by Salviati and colleagues,1 we speculate that, without the increased expression level by the remaining chromosome of some critical genes other than PTEN and BMPR1A located in the deleted region, this condition would have been lethal. Thus, we suggest that the affected child may have some cis-acting–specific sequences in the remaining allele that correct the haploinsufficiency in the 10q22.3-q23 region and lead, paradoxically, to an attenuated phenotype. The study by Salviati et al.1 illustrates how meticulous analyses of cases presenting with a similar disease are useful. Together with our original publication, this study should spur the international community to cooperatively and systematically study all JP syndrome diagnoses, the frequency of deletion of either or both genes, and their precise phenotypic manifestations, including age at onset and severity.

Published
2006
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10. Pure partial trisomy of the short arm of chromosome 5

Author

Jérôme Lejeune, Marie Christine de Blois, M Peeters, P. Popowski, Constantinos Pangalos, and Marie Odile Rethoré

Subjects
Genetics, Male, medicine.medical_specialty, Partial Trisomy, Cytogenetics, Chromosome, Infant, Karyotype, Trisomy, Biology, medicine.disease, Human genetics, Chromosome Banding, Pedigree, Karyotyping, medicine, Chromosomes, Human, Pair 5, Humans, Female, Genetics (clinical), Dysmorphic facies
Abstract

We describe a male infant with multiple dysmorphic features who is trisomic for chromosome segment 5p13.32----5p14.2 as a result of recombination aneusomy. His father is a balanced carrier of an inverted insertion of this chromosome segment. The clinical features of this patient are compared with those of other patients with isolated partial 5p trisomy reported in the literature.

Published
1989

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