Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?

Frontiers in Genetics
Veronica BertiniAngelo Valetto

Abstract

In humans, the most common genomic disorder is the hemizygous deletion of the chromosome 22q11.2 region, that results in the "22q11.2 deletion syndrome" (22q11.2DS). A peculiarity of 22q11.2DS is its great phenotypic variability that makes this pathology a classic example of a syndrome with variable expressivity and incomplete penetrance. The reasons for this variability have not been elucidated yet, and the molecular substrates underlying the different clinical features of 22q11.2DS are still debated. A cohort of 21 patients has been analyzed by array CGH in order to detect some of the genetic differences that may influence this variability. Two aspects have been investigated: (1) the precise localization of the deletion breakpoints within the low copy repeats (LCRs), (2) the additional Copy Number Variations (CNVs) elsewhere in the genome, by analyzing their gene content. Both protein-coding genes and miRNAs were considered, in order to discover possible epistatic interactions between genes of the 22q11.2 region and the rest of the genome. Eighteen out of twenty-one patients had a deletion of ~3 Mb mediated by LCR22-A and D, whereas 3/21 had a smaller deletion. The breakpoints within the LCR22-A and D do not have a major role...Continue Reading

References

Mar 26, 1999·American Journal of Human Genetics·L EdelmannB E Morrow
Dec 3, 2004·Genes & Development·Jinju HanV Narry Kim
Mar 16, 2006·Proceedings of the National Academy of Sciences of the United States of America·Alexander Eckehart UrbanMichael Snyder
Sep 5, 2007·Nature Genetics·Charles LeeArthur R Brothman
Oct 4, 2007·Human Molecular Genetics·Dalila PintoStephen W Scherer
Oct 30, 2007·Molecular Cell·Eugene BerezikovEric C Lai
Dec 25, 2007·Human Molecular Genetics·Ravinesh A KumarSusan L Christian
Feb 3, 2009·Human Molecular Genetics·George KirovMichael C O'Donovan
May 8, 2009·Cytogenetic and Genome Research·D C BittelL D Cooley
Aug 15, 2009·Circulation Research·Prakash K RaoRobert Blelloch
Sep 14, 2010·International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience·D W MeechanA-S LaMantia
Dec 24, 2010·PloS One·Christian VoglerAndreas Papassotiropoulos
Jan 5, 2011·Medicine·Donna M McDonald-McGinn, Kathleen E Sullivan
Mar 4, 2011·Proceedings of the National Academy of Sciences of the United States of America·Karine FénelonJoseph A Gogos
Apr 14, 2011·BMC Genomics·Malgorzata MarcinkowskaPiotr Kozlowski
May 17, 2011·The Journal of Pediatrics·Anne S BassettUNKNOWN International 22q11.2 Deletion Syndrome Consortium
May 25, 2011·Journal of Biomedical Informatics·Harsh DweepNorbert Gretz
Aug 9, 2011·Methods in Molecular Biology·Gregory M Cooper, Heather C Mefford
Aug 16, 2011·Nature Genetics·Gregory M CooperEvan E Eichler
Jan 22, 2013·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Hywel J WilliamsMichael J Owen
Mar 2, 2013·PloS One·Varadarajan VaishnaviArasambattu Kannan Munirajan
Mar 5, 2013·Clinical Immunology : the Official Journal of the Clinical Immunology Society·M Teresa de la MorenaNicolai S C van Oers
May 31, 2013·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Yasuo OuchiTakashi Iwamoto
Apr 22, 2015·American Journal of Human Genetics·Elisabeth E MlynarskiUNKNOWN International Chromosome 22q11.2 Consortium
Jan 9, 2016·Human Genetics·Elisabeth E MlynarskiUNKNOWN International Chromosome 22q11.2 Consortium

❮ Previous
Next ❯

Citations

Mar 10, 2020·Clinical and Experimental Immunology·A LegitimoR Consolini
Mar 3, 2020·Frontiers in Genetics·Qiumei DuNicolai S C van Oers
Mar 16, 2018·Journal of Human Genetics·Sylvie JaillardCélia Ravel
Jan 11, 2019·Human Genetics·Anelisa Gollo DantasMaria Isabel Melaragno

❮ Previous
Next ❯

Software Mentioned

miRanda
TargetScan
Excel
Feature Extraction
UCSC Genome Browser
Agilent
Cytogenomic
miRDB
miRWalk

Related Concepts

Related Feeds

22q11 Deletion Syndrome

22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a congenital disorder caused by a partial deletion of chromosome 22. Symptoms include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development. Discover the latest research on this disease here.