title: Tatton-Brown-Rahman syndrome due to 2p23 microdeletion.
abstract: Tatton-Brown-Rahman syndrome is a new overgrowth syndrome due to DNMT3A (DNA cytosine 5 methyltransferase 3A) mutations. Mutation carriers show a distinctive facial appearance, intellectual disability, and increased height. We report a patient with overgrowth who showed submicroscopic deletion of chromosome 2p23 including DNMT3A. The deletion was detected by array-CGH. He showed moderate ID and distinctive facial gestalt. His clinical features were consistent with those of Tatton-Brown-Rahman syndrome. We suggest that 2p23 microdeletion including DNMT3A may cause similar symptoms in patients with DNMT3A mutations and should be considered in patients with overgrowth.
authors: Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
authors: Nobuhiko
authors: N
authors: Okamoto
authors: Toribe Clinic, Toyonaka, Japan.
authors: Yasuhisa
authors: Y
authors: Toribe
authors: Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.
authors: Keiko
authors: K
authors: Shimojima
authors: Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.
authors: Toshiyuki
authors: T
authors: Yamamoto
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D004248:DNA (Cytosine-5-)-Methyltransferases / Q000235:genetics*; D000090205:DNA Methyltransferase 3A; D005145:Face / Q000503:physiopathology; D017353:Gene Deletion; D006130:Growth Disorders / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D009154:Mutation
chemical_list: C000717967:DNMT3A protein, human; D004248:DNA (Cytosine-5-)-Methyltransferases; D000090205:DNA Methyltransferase 3A
keywords: DNMT3A; Tatton-Brown-Rahman syndrome; overgrowth syndrome