Universität zu Köln

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 and Moog, Ute (2013). The Phenotypic Spectrum of Duplication 5q35.2-q35.3 Encompassing NSD1: Is It Really a Reversed Sotos Syndrome? Am. J. Med. Genet. A, 161 (9). S. 2158 - 2167. HOBOKEN: WILEY-BLACKWELL. ISSN 1552-4833

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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. (c) 2013 Wiley Periodicals, Inc.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Dikow, Nicola UNSPECIFIED UNSPECIFIED UNSPECIFIED Maas, Bianca UNSPECIFIED UNSPECIFIED UNSPECIFIED Gaspar, Harald UNSPECIFIED UNSPECIFIED UNSPECIFIED Kreiss-Nachtsheim, Martina UNSPECIFIED UNSPECIFIED UNSPECIFIED Engels, Hartmut UNSPECIFIED UNSPECIFIED UNSPECIFIED Kuechler, Alma UNSPECIFIED UNSPECIFIED UNSPECIFIED Garbes, Lutz UNSPECIFIED UNSPECIFIED UNSPECIFIED Netzer, Christian UNSPECIFIED UNSPECIFIED UNSPECIFIED Neuhann, Teresa M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Koehler, Udo UNSPECIFIED UNSPECIFIED UNSPECIFIED Casteels, Kristina UNSPECIFIED UNSPECIFIED UNSPECIFIED Devriendt, Koen UNSPECIFIED UNSPECIFIED UNSPECIFIED Janssen, Johannes W. G. UNSPECIFIED UNSPECIFIED UNSPECIFIED Jauch, Anna UNSPECIFIED UNSPECIFIED UNSPECIFIED Hinderhofer, Katrin UNSPECIFIED UNSPECIFIED UNSPECIFIED Moog, Ute UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-476339
DOI:	10.1002/ajmg.a.36046
Journal or Publication Title:	Am. J. Med. Genet. A
Volume:	161
Number:	9
Page Range:	S. 2158 - 2167
Date:	2013
Publisher:	WILEY-BLACKWELL
Place of Publication:	HOBOKEN
ISSN:	1552-4833
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language MENTAL-RETARDATION; SHORT STATURE; 5Q; MICRODUPLICATION; DELETION; REGIONS; GENOME; DELAY Multiple languages Genetics & Heredity Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/47633