NDLI: The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?

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The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?

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The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Dikow, Nicola Maas, Bianca Gaspar, Harald Kreiss-Nachtsheim, Martina Engels, Hartmut Kuechler, Alma Garbes, Lutz Netzer, Christian Neuhann, Teresa M. Koehler, Udo Casteels, Kristina Devriendt, Koen Janssen, Johannes W. G. Jauch, Anna Hinderhofer, Katrin Moog, Ute
Description	Country affiliation: Germany Author Affiliation: Dikow N ( Institute of Human Genetics, Heidelberg University, Heidelberg, Germany. nicola.dikow@med.uni-heidelberg.de)
Abstract	Loss-of-function mutations of NSD1 and 5q35 microdeletions encompassing NSD1 are a major cause of Sotos syndrome (Sos), which is characterized by overgrowth, macrocephaly, characteristic facies, and variable intellectual disability (ID). Microduplications of 5q35.2-q35.3 including NSD1 have been reported in only five patients so far and described clinically as a reversed Sos resulting from a hypothetical gene dosage effect of NSD1. Here, we report on nine patients from five families with interstitial duplication 5q35 including NSD1 detected by molecular karyotyping. The clinical features of all 14 individuals are reviewed. Patients with microduplications including NSD1 appear to have a consistent phenotype consisting of short stature, microcephaly, learning disability or mild to moderate ID, and distinctive facial features comprising periorbital fullness, short palpebral fissures, a long nose with broad or long nasal tip, a smooth philtrum and a thin upper lip vermilion. Behavioral problems, ocular and minor hand anomalies may be associated. Based on our findings, we discuss the possible etiology and conclude that it is possible, but so far unproven, that a gene dosage effect of NSD1 may be the major cause.
File Format	HTM / HTML
ISSN	15524825
Issue Number	9
Volume Number	161A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2013-09-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Chromosome Duplication Chromosomes, Human, Pair 5 Intracellular Signaling Peptides And Proteins Genetics Nuclear Proteins Phenotype Sotos Syndrome Diagnosis Adolescent Adult Child Child, Preschool Chromosome Mapping Comparative Genomic Hybridization Facies Female Gene Dosage Humans Male Polymorphism, Single Nucleotide Young Adult Case Reports Journal Article
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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