Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects

Clinical Epigenetics
Takanobu InoueMasayo Kagami

Abstract

Silver-Russell syndrome (SRS) is a rare congenital disorder characterized by pre- and postnatal growth failure and dysmorphic features. Recently, pathogenic copy number variations (PCNVs) and imprinting defects other than hypomethylation of the H19-differentially methylated region (DMR) and maternal uniparental disomy chromosome 7 have been reported in patients with the SRS phenotype. This study aimed to clarify the frequency and clinical features of patients with SRS phenotype caused by PCNVs. We performed array comparative genomic hybridization analysis using a catalog array for 54 patients satisfying the Netchine-Harbison clinical scoring system (NH-CSS) (SRS-compatible) and for 28 patients presenting with three NH-CSS items together with triangular face and/or fifth finger clinodactyly and/or brachydactyly (SRS-like) without abnormal methylation levels of 9 DMRs related to known imprinting disorders. We then investigated the clinical features of patients with PCNVs. Three of the 54 SRS-compatible patients (5.6%) and 2 of the 28 SRS-like patients (7.1%) had PCNVs. We detected 3.5 Mb deletion in 4p16.3, mosaic trisomy 18, and 3.77-4.00 Mb deletion in 19q13.11-12 in SRS-compatible patients, and 1.41-1.97 Mb deletion in 7q11.23...Continue Reading

References

Apr 1, 1975·Developmental Medicine and Child Neurology·P J ChauvelR H Haslam
Dec 1, 1994·Archives of Disease in Childhood·K Y LaiP Hindmarsh
May 3, 2005·Journal of Medical Genetics·T EggermannH A Wollmann
Feb 3, 2007·American Journal of Medical Genetics. Part a·Megan E TuckerDavid D Weaver
Dec 27, 2007·European Journal of Human Genetics : EJHG·Michael ZeschnigkBernhard Horsthemke
Jul 7, 2010·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Shazia AdalatAdrian S Woolf
Aug 6, 2010·Journal of Medical Genetics·E L WakelingJ M Cobben
Feb 13, 2013·American Journal of Medical Genetics. Part a·Mustafa GhanimCatherine Vincent-Delorme
Aug 5, 2015·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Agatino BattagliaSarah T South
Jun 10, 2016·Database : the Journal of Biological Databases and Curation·Sérgio MatosJosé Luís Oliveira
Nov 4, 2016·Nature Reviews. Endocrinology·Emma L WakelingIrène Netchine
Sep 16, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Masayo KagamiTsutomu Ogata

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