title: Novel 14q11.2 microduplication including the CHD8 and SUPT16H genes associated with developmental delay.
abstract: Neurodevelopmental disorders have long been associated with chromosomal abnormalities, including microdeletions and microduplications. Submicroscopic 14q11.2 deletions involving the CHD8 and SUPT16H genes have been reported in patients with developmental delay (DD)/intellectual disability (ID) or autism spectrum disorders (ASDs) and/or macrocephaly. Recently, disruptive CHD8 mutations were described in patients with similar phenotypes further showing pivotal role of CHD8 gene in the pathogenesis of DD/ID or ASDs. We report here the first case of ~445 kb de novo microduplication, encompassing the minimal critical 14q11.2 deletion region, in 8-year-old boy showing DD, cognitive impairment and facial dysmorphism. Our results suggest that gain of the chromosomal region 14q11.2 is causative for clinical findings present in the patient.
authors.affiliation: Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
authors.forename: Marta
authors.initials: M
authors.lastname: Smyk
authors.affiliation: Department of Pediatric Hematology, Oncology and Transplantology Children's University Hospital, Lublin, Poland.
authors.forename: Anna
authors.initials: A
authors.lastname: Poluha
authors.affiliation: Department of Pediatric Hematology, Oncology and Transplantology Children's University Hospital, Lublin, Poland.
authors.forename: Ilona
authors.initials: I
authors.lastname: Jaszczuk
authors.affiliation: Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Bartnik
authors.affiliation: Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
authors.forename: Joanna
authors.initials: J
authors.lastname: Bernaciak
authors.affiliation: Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
authors.forename: Beata
authors.initials: B
authors.lastname: Nowakowska
mesh_terms: D000067877:Autism Spectrum Disorder / Q000235:genetics* / Q000503:physiopathology; D018797:Cell Cycle Proteins / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D004268:DNA-Binding Proteins / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics* / Q000503:physiopathology; D017353:Gene Deletion; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000503:physiopathology; D008297:Male; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C523331:CHD8 protein, human; D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; C489489:SUPT16H protein, human; D014157:Transcription Factors
keywords: CHD8 gene; SUPT16H gene; developmental delay; microduplication 14q11.2