title: Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: microcephaly, developmental delay and delayed bone age.
abstract: Haploinsufficiency of the NSD1 gene due to 5q35 microdeletions or intragenic mutations is the major cause of Sotos syndrome characterized by generalized overgrowth, large hands and feet with advanced bone age, craniofacial dysmorphic features, learning disability, and possible susceptibility to tumors. Here, we report on a 14-month-old boy with a reverse phenotype of Sotos syndrome due to the reciprocal duplication of the 5q35.3 region, including the NSD1 gene, detected by array CGH. The phenotype includes delayed bone age, microcephaly, seizures, and failure to thrive. Our case suggests that the gene dosage effect of the NSD1 gene is the likely cause for the reversed phenotype of Sotos syndrome in this patient.
authors.affiliation: Department of Pediatrics, The University of Oklahoma Health Sciences Center, Oklahoma City, USA.
authors.forename: Han
authors.initials: H
authors.lastname: Zhang
authors.forename: Xianglan
authors.initials: X
authors.lastname: Lu
authors.forename: Julie
authors.initials: J
authors.lastname: Beasley
authors.forename: John J
authors.initials: JJ
authors.lastname: Mulvihill
authors.forename: Ruizhi
authors.initials: R
authors.lastname: Liu
authors.forename: Shibo
authors.initials: S
authors.lastname: Li
authors.forename: Ji-Yun
authors.initials: JY
authors.lastname: Lee
mesh_terms: D058674:Chromosome Duplication / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D018628:Gene Dosage / Q000235:genetics; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D008297:Male; 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