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

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 rep...

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Main Authors: Dikow, Nicola (Author) , Maas, Bianca (Author) , Gaspar, Harald (Author) , Kreiss‐Nachtsheim, Martina (Author) , Engels, Hartmut (Author) , Kuechler, Alma (Author) , Garbes, Lutz (Author) , Netzer, Christian (Author) , Neuhann, Teresa M. (Author) , Koehler, Udo (Author) , Casteels, Kristina (Author) , Devriendt, Koen (Author) , Janssen, Johannes W. G. (Author) , Jauch, Anna (Author) , Hinderhofer, Katrin (Author) , Moog, Ute (Author)
Format: Article (Journal)
Language:English
Published: 2 August 2013
In: American journal of medical genetics
Year: 2013, Volume: 161, Issue: 9, Pages: 2158-2166
ISSN:1552-4833
DOI:https://doi.org/10.1002/ajmg.a.36046
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/https://doi.org/10.1002/ajmg.a.36046
Verlag, lizenzpflichtig, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.36046
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Author Notes:Nicola Dikow, Bianca Maas, Harald Gaspar, Martina Kreiss‐Nachtsheim, Hartmut Engels, Alma Kuechler, Lutz Garbes, Christian Netzer, Teresa M. Neuhann, Udo Koehler, Kristina Casteels, Koen Devriendt, Johannes W. G. Janssen, Anna Jauch, Katrin Hinderhofer, and Ute Moog
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Summary: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. © 2013 Wiley Periodicals, Inc.
Item Description:Gesehen am 16.12.2020
Physical Description:Online Resource
ISSN:1552-4833
DOI:https://doi.org/10.1002/ajmg.a.36046

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