Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause

Hormone Research in Pædiatrics
Thais K HommaAlexander A L Jorge

Abstract

Genetic imbalances are responsible for many cases of short stature of unknown etiology. This study aims to identify recurrent pathogenic copy number variants (CNVs) in patients with syndromic short stature of unknown cause. We selected 229 children with short stature and dysmorphic features, developmental delay, and/or intellectual disability, but without a recognized syndrome. All patients were evaluated by chromosomal microarray (array-based comparative genomic hybridization/single nucleotide polymorphism array). Additionally, we searched databases and previous studies to recover recurrent pathogenic CNVs associated with short stature. We identified 32 pathogenic/probably pathogenic CNVs in 229 patients. By reviewing the literature, we selected 4 previous studies which evaluated CNVs in cohorts of patients with short stature. Taken together, there were 671 patients with short stature of unknown cause evaluated by chromosomal microarray. Pathogenic/probably pathogenic CNVs were identified in 87 patients (13%). Seven recurrent CNVs, 22q11.21, 15q26, 1p36.33, Xp22.33, 17p13.3, 1q21.1, 2q24.2, were observed. They are responsible for about 40% of all pathogenic/probably pathogenic genomic imbalances found in short stature patients...Continue Reading

References

Apr 2, 2008·Journal of Perinatology : Official Journal of the California Perinatal Association·T E Herman, M J Siegel
Sep 12, 2008·The New England Journal of Medicine·Heather C MeffordEvan E Eichler
May 20, 2009·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Laurie H SeaverUNKNOWN American College of Medical Genetics (ACMG) Professional Practice and Guidelines Committee
Sep 30, 2009·Hormone Research·Wilma OostdijkJan M Wit
Jan 8, 2011·European Journal of Medical Genetics·Chiara MagriSergio Barlati
Mar 15, 2011·Best Practice & Research. Clinical Endocrinology & Metabolism·Katrin Hoffmann, Raoul Heller
Mar 15, 2011·Best Practice & Research. Clinical Endocrinology & Metabolism·J KlammtR Pfäffle
Jun 18, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Hutton M KearneyUNKNOWN Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee
Mar 8, 2012·The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society·Anja WeiseThomas Liehr
Mar 22, 2013·PLoS Genetics·Diana ZahnleiterChristian T Thiel
Apr 23, 2013·European Journal of Medical Genetics·Martin PootRon Hochstenbach
Sep 26, 2013·European Journal of Human Genetics : EJHG·Hermine A van DuyvenvoordeJan M Wit
Nov 1, 2013·Nucleic Acids Research·Jeffrey R MacDonaldStephen W Scherer
Apr 16, 2014·The Journal of Pediatrics·Alan D Rogol, Gregory F Hayden
Oct 11, 2014·Hormone Research in Pædiatrics·Jan M WitClaudia A L Ruivenkamp
Jan 9, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Wai Lun Alan FungAnne S Bassett
Jun 13, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Raphael BernierUNKNOWN Simons VIP consortium
Oct 7, 2015·Nature Reviews. Endocrinology·Jeffrey BaronOla Nilsson
Nov 19, 2015·European Journal of Endocrinology·Jan M WitSarina G Kant
Dec 10, 2015·Hormone Research in Pædiatrics·Jesús Argente
Dec 23, 2015·American Journal of Medical Genetics. Part a·Ana Pinheiro Machado CantonAlexander Augusto Lima Jorge
Oct 27, 2016·Revista chilena de pediatría·Sabina Bello, Antonio Rodríguez-Moreno
Mar 18, 2016·Journal of Human Genetics·Hirohito ShimaUNKNOWN Japanese SHOX study group
May 20, 2016·Molecular Syndromology·Maki FukamiTsutomu Ogata
Jul 1, 2016·BMC Genomics·Gil StelzerDoron Lancet
Nov 4, 2016·Nature Reviews. Endocrinology·Emma L WakelingIrène Netchine
Sep 1, 2013·Journal of Pediatric Genetics·Lukas SoellnerThomas Eggermann
Nov 9, 2016·European Journal of Pediatrics·Aisling M O'RiordanMichael J O'Grady
Apr 11, 2017·Hormone Research in Pædiatrics·Paula OcaranzaVivian Hwa
Apr 22, 2017·Human Genome Variation·Miki WatanabeIssei Imoto

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Citations

Jan 1, 2020·BMC Medical Genomics·Dvir DaharySimon Fishilevich
Jul 21, 2020·The Journal of Clinical Endocrinology and Metabolism·Silke PeetersUNKNOWN WES-BESPEED Study Group
Jan 31, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Cassie S MintzUNKNOWN ACMG Professional Practice and Guidelines Committee

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