Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion

Human Genetics
Morten DunøMarianne Schwartz

Abstract

With the recent advances in genomic research, it has become apparent that a substantial part of human malformation and mental retardation is caused by imbalances in genomic content. Thus, there is an increasing need for versatile methods allowing a detailed mapping and cloning of the actual rearrangements. We have combined the flexibility of real-time quantitative PCR with the knowledge of human genome sequence to perform a copy number scanning in three patients known to harbour a deletion in the 7p14p15 locus. In two of the patients the actual breakpoints were cloned and sequenced, whereas the breakpoint of the third patient was mapped to a region previously predicted to be prone for rearrangements. One patient also harboured an inversion in connection with the deletion that disrupted the HDAC9 gene. All three patients showed clinical characteristics reminiscent of the hand-foot-genital syndrome and were deleted for the entire HOXA cluster. Two patients were also deleted for DFNA5, a gene implicated in dominant nonsyndromic hearing impairment, but neither patient showed signs of reduced hearing capabilities. The described copy number scanning approach is largely independent of the genomic locus and may be a valuable tool for c...Continue Reading

References

Jul 1, 1994·American Journal of Medical Genetics·K A ChotaiR M Winter
Nov 1, 1995·Nature Medicine·M Nyström-LahtiB Vogelstein
Mar 25, 1995·Nucleic Acids Research·P D SiebertS A Lukyanov
Feb 1, 1997·Nature Genetics·D P Mortlock, J W Innis
Oct 15, 1998·Nature Genetics·L Van LaerG Van Camp
Dec 22, 1999·Nucleic Acids Research·J A ArmourG Cross
Feb 29, 2000·Nature·H YanB Vogelstein
Feb 7, 2001·Journal of Medical Genetics·J S RowlandUNKNOWN UK Clinical Molecular Genetics Society HMSN Project Group
May 19, 2001·Journal of Medical Genetics·A MégarbanéS P Romana
Sep 6, 2001·Proceedings of the National Academy of Sciences of the United States of America·X ZhouV M Richon
Nov 6, 2001·Journal of Medical Genetics·M KirchhoffC Lundsteen
Jan 25, 2002·American Journal of Medical Genetics·Sugandhi A Tharapel, Jayarama S Kadandale
May 7, 2002·American Journal of Medical Genetics·Helen CoxDian Donnai
Oct 3, 2002·American Journal of Medical Genetics·Frances R Goodman
Oct 29, 2002·Human Mutation·J A L ArmourG R Taylor
Jan 17, 2003·Genome Research·Scott SchwartzWebb Miller
Apr 5, 2003·Journal of Medical Genetics·L FrisénA Nordenskjöld
May 20, 2003·Human Mutation·Peter D StensonDavid N Cooper
Jul 11, 2003·Nature·Ladeana W HillierRichard K Wilson
Aug 19, 2003·American Journal of Medical Genetics. Part a·Joan H M Knoll, Peter K Rogan
Sep 4, 2003·Human Molecular Genetics·Manjunath A NimmakayaluBeverly S Emanuel
Dec 17, 2003·Audiology & Neuro-otology·Anne M L C BischoffHannie Kremer

❮ Previous
Next ❯

Citations

Jun 15, 2007·Annals of Human Genetics·M DunoM Schwartz
Jun 17, 2014·International Journal of Pediatric Otorhinolaryngology·Yongchuan ChaiTao Yang
May 29, 2007·European Journal of Medical Genetics·Anne-Marie BisgaardFlemming Skovby
Jan 9, 2007·Hearing Research·Brendan J McCulloughBruce L Tempel
Sep 15, 2015·Chinese Medical Journal·Mei-Na Li-YangGuang-Qian Xing
Apr 18, 2015·Italian Journal of Pediatrics·Lidia PezzaniSusanna Esposito
Sep 21, 2016·American Journal of Medical Genetics. Part a·Emir TasSelma Feldman Witchel
Jun 17, 2016·Revista da Associação Médica Brasileira·Wellcy Gonçalves TeixeiraMaíra Cristina Menezes Freire
Apr 26, 2012·The Annals of Otology, Rhinology, and Laryngology·Ken Op de BeeckGuy Van Camp
Sep 7, 2006·American Journal of Medical Genetics. Part a·Anne-Marie BisgaardFlemming Skovby
Feb 14, 2006·American Journal of Medical Genetics. Part a·Anne-Marie BisgaardThue Bryndorf
May 29, 2012·Pediatrics International : Official Journal of the Japan Pediatric Society·Kana HosokiShinji Saitoh

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.