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Leszinski, G.S.* ; Warncke, K.* ; Hoefele, J.* ; Wagner, M.

A case report and review of the literature indicate that HMGA2 should be added as a disease gene for Silver-Russell syndrome.

Gene 663, 110-114 (2018)
Postprint DOI PMC
Open Access Green
Patients with Silver-Russell syndrome (SRS), a syndromic growth retardation syndrome, usually harbor an epimutation at chromosome 11p15 or a maternal uniparental disomy of chromosome 7. However, to date the genetic cause remains unknown in around 40% of SRS cases, suggesting genetic heterogeneity and involvement of other genes.We present a 4-year-old female patient with the clinical diagnosis of SRS and negative results in common genetic SRS diagnostics. Whole exome sequencing identified a de novo heterozygous 7.3 kb deletion on chromosome 12q14.3 including exon 1 and 2 of HMGA2.HMGA2 encodes an architectural transcription factor and has already been linked to body size variations in various genome-wide association studies and mouse models. Reviewing the literature, we found additional four patients with a phenotype of SRS harboring point mutations or structural variants involving HMGA2. We conclude that genetic testing of HMGA2 should be considered in routine diagnostics in patients with the suspicion of SRS.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Sequence Deletion ; Germ-line Mutation ; Dna Copy Number Variation ; Dwarfism ; Differential Diagnosis ; Whole Exome Sequencing; Clinical Scoring System; Human Height; Common; Phenotype; Mutation; Adult; Lipomas; Binding; Growth; Tumors
Language
Publication Year 2018
HGF-reported in Year 2018
ISSN (print) / ISBN 0378-1119
e-ISSN 1879-0038
Journal Gene
Quellenangaben Volume: 663, Issue: , Pages: 110-114 Article Number: , Supplement: ,
Publisher Elsevier
Publishing Place Po Box 211, 1000 Ae Amsterdam, Netherlands
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)
POF-Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-500700-001
DOI 10.1016/j.gene.2018.04.027
WOS ID WOS:000434901700013
Scopus ID 85046734884
PubMed ID 29655892
Erfassungsdatum 2018-06-22
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