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4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment

ISSN:1769-7212
2009年第52卷第6期
Alison Yeung,Damien Bruno,Ingrid E. Scheffer,Daniel Carranza,Trent Burgess,Howard R. Slater,David J. Amor
1. Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Australia;2. Department of Paediatrics, University of Melbourne, Melbourne, Australia;3. Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia;1. American Museum of Natural History, Division of Invertebrate Zoology, Central Park West at 79th St., New York City, NY 10024, USA;2. Museum of Comparative Zoology, Department of Organismic and Evolutionary Biology, Harvard University, 26 Oxford Street, Cambridge, MA 02138, USA;1. Departamento de Genética, Instituto Nacional de Ciencias Médicas y Nutrición “Salvador Zubirán”, México, D.F., Mexico;2. Unidad de Investigación, Instituto de Oftalmología Conde de Valenciana y Departamento de Bioquímica, Facultad de Medicina, UNAM, Mexico;1. Haematology, Department of Molecular and Clinical Cancer Medicine, Institute of Translational Medicine, University of Liverpool, Liverpool, United Kingdom; and;2. Cancer Sciences, Faculty of Medicine, University of Southampton, Southampton, United Kingdom;1. College of Fisheries, Key Lab of Agricultural Animal Genetics, Breeding and Reproduction of Ministry of Education/Key Lab of Freshwater Animal Breeding, Ministry of Agriculture, Huazhong Agricultural University, Wuhan, 430070, China;2. Collaborative Innovation Center for Efficient and Health Production of Fisheries in Hunan Province, Changde, 41500, China;1. Pediatric Neurology Unit, Department of Women’s and Children’s Health, University of Padua, Italy;2. Clinical Genetics Unit, Department of Women’s and Children’s Health, University of Padua, Italy;3. Pediatric Unit, City Hospital of Thiene, Italy

Microdeletions at 14q12 that include FOXG1, or loss of function mutations in FOXG1, are associated with the congenital variant of Rett syndrome. By SNP microarray analysis we identified a corresponding microduplication at 14q12 in a nine year old girl with symptomatic generalised epilepsy, severe intellectual impairment, and minor dysmorphisms, but without microcephaly. The 14q12 microduplication comprised 4.45 Mb of DNA and included FOXG1. This is the first report of duplication involving FOXG1 and suggests a dosage sensitive role for FOXG1 in brain development.

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ISSN:1769-7212
2009年第52卷第6期

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