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Article

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

American journal of medical genetics. Part A - 1 Sept 2013

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

Abstract excerpt

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...

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Identifiers

PMID: 23913520
DOI: 10.1002/ajmg.a.36046

Genes

NSD1

Provenance

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The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?PMID 23913520Read ↗

Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.Semantic proximity Read ↗

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Reversal of Clinical Phenotype of Sotos Syndrome Due to Microduplication of NSD1 Gene.Semantic proximity Read ↗

Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations.Semantic proximity Read ↗

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