title: Persistent falcine sinus and unilateral renal agenesis in a girl with Sotos syndrome.
abstract: Sotos syndrome is an overgrowth syndrome characterized by distinctive facial features, developmental delay, and macrocephaly. Here, we present a 10-year-old girl with prenatal and postnatal overgrowth, prominent forehead, pointed chin, and advanced bone age. She also has a persistent falcine sinus in the posterior falx cerebri, patent ductus arteriosus, unilateral renal agenesis, and scoliosis. A pituitary macroadenoma was also found with external compression of the inferior aspect of the optic chiasm. We identified a de novo missense mutation of the NSD1 (nuclear receptor-binding SET domain protein 1) gene in this patient. Computational three-dimensional structural analysis revealed that the NSD1 mutation induced major alterations.
authors.affiliation: Department of Pediatrics, Division of Genetics Department of Diagnostic Radiology School of Medicine, Chung Shan Medical University, Taichung, Taiwan.
authors.forename: Pen-Hua
authors.initials: PH
authors.lastname: Su
authors.forename: Ju-Shan
authors.initials: JS
authors.lastname: Yu
authors.forename: Suh-Jen
authors.initials: SJ
authors.lastname: Chen
authors.forename: Jia-Yuh
authors.initials: JY
authors.lastname: Chen
authors.forename: Teng-Fu
authors.initials: TF
authors.lastname: Tsao
mesh_terms: D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D047908:Intracellular Signaling Peptides and Proteins / Q000737:chemistry / Q000235:genetics; D007668:Kidney / Q000002:abnormalities*; D008279:Magnetic Resonance Imaging; D008969:Molecular Sequence Data; D009687:Nuclear Proteins / Q000737:chemistry / Q000235:genetics; D010256:Paranasal Sinuses / Q000002:abnormalities*; D017433:Protein Structure, Secondary; D058495:Sotos Syndrome / Q000150:complications* / Q000235:genetics
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; C113272:NSD1 protein, human