13q13.3 microdeletion associated with apparently balanced translocation of 46,XX,t(7;13) suggests NBEA involvement |
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| Affiliation: | 1. Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan;2. Division of Medical Genetics, Kanagawa Children''s Medical Center, Yokohama, Japan;3. Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, NCNP, Tokyo, Japan;1. Department of Pediatrics, Japanese Red Cross Kyoto Daiichi Hospital, Kyoto, Japan;2. Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan;3. Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, Japan;4. Department of Metabolism, Chiba Children''s Hospital, Chiba, Japan;5. Department of Pediatrics & Clinical Genomics, Saitama Medical University Hospital, Iruma, Japan;1. Department of Pediatrics, Aichi Medical University, Japan;2. Department of Pediatric Neurology, Aichi Prefectural Colony Central Hospital, Japan;3. Research Institute for the Molecular Pathomechanisms of Epilepsy, Fukuoka University, Japan;4. Department of Pediatrics, Fukuoka University, Japan;5. Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Japan;6. Department of Genome Medicine, National Center for Child Health and Development, Japan;7. Department of Pediatrics, Nagoya University Graduate School of Medicine, Japan;8. Center for Advanced Medicine and Clinical Research, Nagoya University Hospital, Japan;1. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan;2. Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Kanagawa 236-0004, Japan;3. Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8551, Japan;4. Department of Genome Medicine Development, Medical Genome Center, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8551, Japan;5. Biomedical Informatics Laboratory, Department of Molecular Life Science, Tokai University School of Medicine, Isehara, Kanagawa 259-1193, Japan;6. Department of Pathophysiology, Tokyo Medical University, Shinjuku-ku, Tokyo 160-8402, Japan;7. Department of Pediatrics, The Heart Institute, University of Tennessee Health Science Center, Memphis, TN 38103, USA;8. Department of Education, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Chuo-shi, Yamanashi 409-3898, Japan;9. Department of Neurology, National Hospital Organization Higashisaitama Hospital, Hasuda, Saitama 349-0196, Japan;10. Department of Neurology, National Hospital Organization Suzuka National Hospital, Suzuka, Mie 513-8501, Japan;11. Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan;12. Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka 431-3192, Japan;1. Istituto Auxologico Italiano, IRCCS, Lab. di Citogenetica Medica, Milano, Italy;2. ARNAS Garibaldi Nesima, Catania, Italy;3. L.C. Laboratori Campisi srl, Avola, SR, Italy;4. UOS Citogenetica Laboratorio Analisi ASST Ovest Milanese, Presidio Ospedaliero di Legnano, Italy;5. Lab di Genetica Medica, IRCCS Burlo Garofolo, Trieste, Italy;6. Lab. di Genetica Medica SOS Malattie Rare, AOU Ospedali Riuniti Umberto I-G.M.Lancisi-G.Salesi, Ancona, Italy;7. Policlinio S.Orsola-Malpighi, U.O.Ostetricia e Medicina dell''età Prenatale, Laboratorio di Citogenetica, Bologna, Italy;8. ASST Grande Ospedale Metropolitano Niguarda,SC Anatomia Istologia Patologica e Citogenetica, Milano, Italy;9. Lab di Citogenetica e Genetica Medica – Laboratorio Analisi Humanitas Research Hospital, Rozzano, MI, Italy |
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| Abstract: | ![]()
BackgroundDeletion of 13q13.3 is an extremely rare event.CaseWe report on a 25-month-old girl with neurodevelopmental disorder and intellectual disability. She had dysmorphic facies characterized by synophrys, long and narrow palpebral fissures; and a large, round face with small organs such as the eyes and mouth positioned near the center. She was hypotonic and had autism-like behaviors. Blood tests and brain MRI revealed no specific findings. However, G-banding chromosome analysis showed an apparently balanced translocation: 46,XX,t(7,13)(q11.23;q12.3). Both parents had normal karyotypes. Furthermore, her abnormal phenotype and chromosomal breakpoint lesion were suspected to be associated. Hence, we conducted array comparative genomic hybridization, which revealed a 3.2 Mb novel pathological microdeletion at 13q13.3 involving 17 genes including neurobeachin (NBEA), a neurodevelopment disorder gene. Furthermore, fluorescence in situ hybridization using probes adjacent to the microdeletion suggested a concomitant occurrence of the deletion and translocation as the structural basis of this rare genomic variant.ConclusionNBEA may have roles in her neurodevelopmental phenotypes, whereas other genes within the 13q13.3 microdeletion may contribute to her dysmorphic features. |
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| Keywords: | Apparently balanced chromosomal translocation array-Comparative Genomic Hybridization (a-CGH) 13q13.3 microdeletion Neurodevelopmental disorder Intellectual disability |
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