Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions

BMC Medical Genetics
Raihan K UddinShiva M Singh

Abstract

Chromosome 22q11.2 region is highly susceptible to rearrangement, specifically deletions that give rise to a variety of genomic disorders including velocardiofacial or DiGeorge syndrome. Individuals with this 22q11 microdeletion syndrome are at a greatly increased risk to develop schizophrenia. Genotype analysis was carried out on the DNA from a patient with the 22q11 microdeletion using genetic markers and custom primer sets to define the deletion. Bioinformatic analysis was performed for molecular characterization of the deletion breakpoint sequences in this patient. This 22q11 deletion patient was established to have a novel 2.3 Mb deletion with a proximal breakpoint located between genetic markers RH48663 and RH48348 and a distal breakpoint between markers D22S1138 and SHGC-145314. Molecular characterization of the sequences at the breakpoints revealed a 270 bp shared sequence of the breakpoint regions (SSBR) common to both ends that share >90% sequence similarity to each other and also to short interspersed nuclear elements/Alu elements. This Alu sequence like SSBR is commonly in the proximity of all known deletion breakpoints of 22q11 region and also in the low copy repeat regions (LCRs). This sequence may represent a pre...Continue Reading

References

Oct 1, 1986·Human Genetics·S AugusseauM Prieur
Feb 1, 1995·Journal of Molecular Evolution·J Jurka, C Pethiyagoda
Jun 15, 1994·American Journal of Medical Genetics·E W ChowR Weksberg
Jun 1, 1996·Current Opinion in Genetics & Development·J Burn, J Goodship
Oct 27, 1997·American Journal of Human Genetics·C CarlsonB E Morrow
Mar 26, 1999·American Journal of Human Genetics·L EdelmannB E Morrow
Jun 17, 1999·Human Molecular Genetics·L EdelmannB E Morrow
Jun 25, 1999·Molecular Genetics and Metabolism·P L Deininger, M A Batzer
Oct 26, 1999·Archives of General Psychiatry·K C MurphyM J Owen
Jul 19, 2000·Mental Retardation and Developmental Disabilities Research Reviews·R J Shprintzen
Sep 27, 2000·Human Molecular Genetics·P J Scambler
Mar 10, 2001·Nature·E S LanderUNKNOWN International Human Genome Sequencing Consortium
Mar 10, 2001·Nature·V G CheungUNKNOWN BAC Resource Consortium
May 8, 2001·Genetics in Medicine : Official Journal of the American College of Medical Genetics·T H ShaikhB S Emanuel
Nov 2, 2001·The British Journal of Psychiatry : the Journal of Mental Science·K C Murphy, M J Owen
Dec 26, 2001·Nucleic Acids Research·T HubbardM Clamp
Jan 31, 2002·Trends in Genetics : TIG·Paweł Stankiewicz, James R Lupski
Apr 2, 2002·American Journal of Human Genetics·Heather E McDermid, Bernice E Morrow
May 4, 2002·Nature Reviews. Genetics·Mark A Batzer, Prescott L Deininger
Aug 10, 2002·Science·Jeffrey A BaileyEvan E Eichler
Aug 15, 2002·International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience·Thomas M MaynardAnthony-Samuel LaMantia
Aug 31, 2002·Genes, Chromosomes & Cancer·Elena KolomietzJeremy A Squire
Jan 10, 2003·Nucleic Acids Research·D KarolchikUNKNOWN University of California Santa Cruz

❮ Previous
Next ❯

Citations

Mar 14, 2013·Annals of Maxillofacial Surgery·L B Lahiru PrabodhaIsurani Ileyperuma
Dec 5, 2006·Gene·C Daniel EllerYork Marahrens
Mar 4, 2014·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Guia GuffantiFabio Macciardi
May 29, 2008·Clinical Genetics·J MochizukiN Matsumoto
Nov 16, 2007·American Journal of Medical Genetics. Part a·Andrea C StachonRosanna Weksberg
Dec 31, 2019·Human Molecular Genetics·Lisanne VervoortJoris R Vermeesch
Dec 9, 2010·Genetica·Marc Y Lachapelle, Guy Drouin
Dec 23, 2006·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Detlef BoehmHartmut P H Neumann

❮ Previous
Next ❯

Methods Mentioned

BETA
PCR

Software Mentioned

UCSC
RepeatMasker
Ensembl
blast
IGB browser
bl2seq
IGB ( Integrated Genome Browser )
BedAnalyzer
Integrated Genome Browser ( IGB )
custom perl scripts

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.

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Related Papers

Journal of Intellectual Disability Research : JIDR
Kevin M AntshelWendy R Kates
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie
A Levy-MozziconacciN Philip
© 2021 Meta ULC. All rights reserved