title: De novo 5q35.5 duplication with clinical presentation of Sotos syndrome.
abstract: We report on a girl with developmental delay and a de novo 264 kb interstitial duplication in the region of Sotos syndrome at 5q35.3 in the immediate vicinity of critical NSD1 gene, but manifesting the phenotype, of overgrowth both prenatal stage and postnatal, macrocephaly, developmental delay, and resembling that of Sotos syndrome, rather than the recently reported syndrome of reciprocal duplication. The duplication is located right downstream from the NSD1 gene, a region which appears critical for the expression of the gene as regulatory elements might be disrupted or the expression of a not amplified critical gene might be otherwise affected by the duplicated region. Thus,in the process of evaluating identified CNVs attention should be drawn to the possible influence of chromosomal rearrangement on distant genes, which could add additional diversity to genomic disorders. Our case demonstrates that evaluation of the size of chromosomal alteration and gene content are not sufficient for assessment of CNV's pathogenicity and the context of adjacent genes should be considered.
authors: Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Lithuania. jurate.kasnauskiene@santa.lt
authors: Jurate
authors: J
authors: Kasnauskiene
authors: Loreta
authors: L
authors: Cimbalistiene
authors: Zivile
authors: Z
authors: Ciuladaite
authors: Egle
authors: E
authors: Preiksaitiene
authors: Zita Aušrelė
authors: ZA
authors: Kučinskienė
authors: Joe A
authors: JA
authors: Hettinger
authors: Carolina
authors: C
authors: Sismani
authors: Philippos C
authors: PC
authors: Patsalis
authors: Vaidutis
authors: V
authors: Kučinskas
mesh_terms: D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D058674:Chromosome Duplication / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D020732:Cytogenetic Analysis; D005260:Female; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D008279:Magnetic Resonance Imaging; D009687:Nuclear Proteins / Q000235:genetics; D010641:Phenotype; D058495:Sotos Syndrome / Q000235:genetics* / Q000473:pathology*
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; C113272:NSD1 protein, human