Copy number variations in 119 Chinese children with idiopathic short stature identified by the custom genome-wide microarray

Molecular Cytogenetics
Guorui HuXuefan Gu

Abstract

Idiopathic short stature (ISS) refers to short stature with no evident etiologies. The custom genome-wide microarray specifically designed to cover height-related genes may be helpful to detect copy number variations (CNVs) in ISS patients, which may be missed by the general microarray. The aim of the study was to validate the applicability of the custom microarray and to analyze CNVs in Chinese ISS children. Sixty non-polymorphic CNVs were identified in 119 ISS patients. There were 13 small CNVs with a size below 50 kb, accounting for 21.7 % of all the CNVs (13/60). Five pathogenic or possibly pathogenic CNVs were detected in five patients, including deletions at 22q11.21, duplications at 4q11-q13.1, 4q12 and Yp11.32-p11.2. Taking only the pathogenic variants into account, the diagnostic yield was 2.5 % (3/119). The TMEM165, POLR2B and PDGFRA genes were analyzed as candidate genes. A 15 kb deletion in the RASA2 gene was of interest for further investigation. This study showed that the custom microarray is applicable to detect CNVs in patients with short stature. Candidate genes and CNVs detected in ISS patients may be helpful for CNV analysis of short stature, especially in East Asian population.

References

Jan 19, 2006·Nature Reviews. Genetics·Lars FeukStephen W Scherer
Sep 5, 2007·Nature Genetics·Charles LeeArthur R Brothman
Jan 9, 2008·American Journal of Human Genetics·Shay Ben-ShacharAnkita Patel
Jan 10, 2008·Growth Hormone & IGF Research : Official Journal of the Growth Hormone Research Society and the International IGF Research Society·J M WitP Cohen
Jul 19, 2008·Developmental Disabilities Research Reviews·Robert J Shprintzen
Feb 14, 2009·Birth Defects Research. Part A, Clinical and Molecular Teratology·Mascha ToepoelEverardus J J van Zoelen
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
Dec 15, 2010·The Journal of Clinical Endocrinology and Metabolism·S Benito-SanzK E Heath
Mar 1, 2012·Proceedings of the National Academy of Sciences of the United States of America·Audrey De Rocca Serra-NédélecArmelle Yart
Jun 9, 2012·Hormone Research in Pædiatrics·J M WitM Losekoot
Jun 12, 2012·American Journal of Human Genetics·François FoulquierGert Matthijs
Nov 10, 2012·Biochimica Et Biophysica Acta·Po-Han ChenXiaolin He
Mar 22, 2013·PLoS Genetics·Diana ZahnleiterChristian T Thiel
Jun 15, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Fady M MikhailAndrew J Carroll
Jun 19, 2013·The Journal of Clinical Endocrinology and Metabolism·Sophie R WangAndrew Dauber
Jul 28, 2013·European Journal of Medical Genetics·Miriam Coelho MolckVera Lúcia Gil-da-Silva-Lopes
Sep 26, 2013·European Journal of Human Genetics : EJHG·Hermine A van DuyvenvoordeJan M Wit
Nov 28, 2013·Nucleic Acids Research·Ana Kozomara, Sam Griffiths-Jones
Apr 9, 2014·Journal of Molecular Endocrinology·Dan HansonPeter E Clayton
May 6, 2014·JAMA : the Journal of the American Medical Association·Laurie E Cohen
Jun 11, 2014·The Journal of Clinical Endocrinology and Metabolism·Andrew DauberJoel N Hirschhorn
Jul 23, 2014·Proceedings of the National Academy of Sciences of the United States of America·Peng-Chieh ChenRaju Kucherlapati
Oct 11, 2014·Hormone Research in Pædiatrics·Jan M WitClaudia A L Ruivenkamp
Oct 29, 2014·Nucleic Acids Research·Janan T EppigUNKNOWN Mouse Genome Database Group

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Citations

Mar 15, 2018·Indian Journal of Endocrinology and Metabolism·Hema SinghSandeep Kumar Mathur
Nov 14, 2017·Hormone Research in Pædiatrics·Thais K HommaAlexander A L Jorge
Jan 7, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Haiming YuanXiaoli Chen

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Methods Mentioned

BETA
ISS
SGA
GTPase

Software Mentioned

Agilent CytoGenomics Edition
Google Scholar

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