15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability,epilepsy and truncal obesity |
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| Affiliation: | 1. Division of Human Genetics, Department of Pediatrics, Inselspital, University of Bern, Switzerland;2. Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway;3. Habilitation Service for Adults, Haukeland University Hospital, Bergen, Norway;1. Department of Congenital and Pediatric Cardiology, University Hospitals Leuven, Belgium;2. Center of Human Genetics, University Hospitals Leuven, Katholieke Universiteit Leuven, Belgium;3. Department of Anatomical Pathology, University Hospitals Leuven, Belgium;1. Medical Genetics Institute, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles CA, USA;2. Greenwood Genetic Center, Greenwood SC, USA;3. Thompson Center for Autism and Neurodevelopmental Disorders, Department of Child Health, University of Missouri, Columbia MO, USA;4. Signature Genomics, Spokane WA, USA;1. Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden 01307, Germany;2. Instituts für Radiologische Diagnostik am Universitätsklinikum Carl Gustav Carus Dresden, Dresden, Germany;1. Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology- Physiology and Pediatrics, Medical School, University of Zaragoza, Spain;2. Service of Pediatrics, Hospital Clínico Universitario “Lozano Blesa”, Zaragoza, Spain;3. Department of Pediatrics, Hospital Pablo Tobón Uribe, Medellín, Colombia;4. Department of Molecular Biology, Sciences School, National University of Río Cuarto, Argentina;5. Cell Cycle Group, Cancer Epigenetics and Biology Program (PEBC), Institut d''Investigacions Biomèdica de Bellvitge (IDIBELL), L''Hospitalet de Llobregat, Barcelona, Spain;6. Quantitative Genomic Medicine Laboratories, Barcelona, Spain;7. Molecular Modelling Group, Center of Molecular Biology ‘‘Severo Ochoa’’ (CSIC-UAM), Cantoblanco, Madrid, Spain;8. Pediatric Clinic, University of Milano Bicocca, San Gerardo Hospital, Monza, Italy;1. Laboratorio de Genética y Enfermedades Metabólicas, INTA, Universidad de Chile, Santiago, Chile;2. Sección Genética, Departamento de Medicina, Hospital Clínico Universidad de Chile, Santiago, Chile;3. Laboratorio de Citogenética, Clínica Alemana, Santiago, Chile;4. Laboratorio de Genética Molecular Humana, Programa de Genética Humana, Instituto de Ciencias Biomédicas, Universidad de Chile, Santiago, Chile;5. Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom;6. Monogenic Molecular Genetics, University of Exeter Medical School, St. Luke''s Campus, Exeter, United Kingdom;1. Department of Medical Genetics, University of Oslo and Oslo University Hospital, Oslo, Norway;2. Department for Adult Habilitation, Akershus University Hospital, Oslo, Norway |
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| Abstract: | We report two patients with microdeletions in chromosomal subdomain 15q26.1 encompassing only two genes, CHD2 and RGMA. Both patients present a distinct phenotype with intellectual disability, epilepsy, behavioral issues, truncal obesity, scoliosis and facial dysmorphism. CHD2 haploinsufficiency is known to cause intellectual disability and epilepsy, RGMA haploinsufficiency might explain truncal obesity with onset around puberty observed in our two patients. |
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| Keywords: | Microdeletion 15q26.1 Epilepsy Intellectual disability Array-CGH |
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