Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene

Human Genetics
Sylvia L AndersonBerish Y Rubin

Abstract

Nemaline myopathy (NM) is a neuromuscular disorder that is clinically diverse and can be attributed to mutations in any of several genes. The Ashkenazi Jewish population, which represents a relatively genetically homogeneous group, has an increased frequency of several genetic disorders and has been the beneficiary of genetic screening programs that have reduced the incidence of these diseases. The identification of individuals with NM in this population has prompted a study of its cause. Our study has revealed that five NM patients from five families bear an identical 2,502-bp deletion that lies in the nebulin gene and that includes exon 55 and parts of introns 54 and 55. The absence of this exon results in the generation of a transcript that encodes 35 fewer amino acids. An analysis of the gene frequency of this mutation in a random sample of 4,090 Ashkenazi Jewish individuals has revealed a carrier frequency of one in 108.

Citations

Apr 19, 2012·European Journal of Human Genetics : EJHG·Kristen J NowakNigel G Laing
Feb 28, 2013·European Journal of Human Genetics : EJHG·Mariacristina ScotoFrancesco Muntoni
Dec 1, 2010·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Siegfried LabeitHenk Granzier
Oct 1, 2009·Physiological Reviews·Aikaterini Kontrogianni-KonstantopoulosRobert J Bloch
May 30, 2013·Brain : a Journal of Neurology·Coen A C OttenheijmHenk Granzier
Apr 22, 2009·Neuromuscular Disorders : NMD·Alan Emery
Feb 24, 2009·Neuromuscular Disorders : NMD·Victor Dubowitz
Feb 24, 2009·Neuromuscular Disorders : NMD·Vilma-Lotta LehtokariCarina Wallgren-Pettersson
Jul 23, 2015·European Journal of Human Genetics : EJHG·Kirsi KiiskiKatarina Pelin
Sep 11, 2014·Human Mutation·Vilma-Lotta LehtokariCarina Wallgren-Pettersson
May 25, 2010·Obstetrics and Gynecology Clinics of North America·Susan Klugman, Susan J Gross
Dec 22, 2005·Neuromuscular Disorders : NMD·Carina Wallgren-Pettersson, Nigel G Laing
Jul 6, 2014·Prenatal Diagnosis·Jodi D HoffmanRuth A Heim
Jul 4, 2012·Neuromuscular Disorders : NMD·H TajsharghiA Oldfors
Dec 1, 2009·Journal of Structural Biology·Coen A C OttenheijmHenk Granzier
Jul 5, 2011·Neuromuscular Disorders : NMD·Vilma-Lotta LehtokariCarina Wallgren-Pettersson
Jan 25, 2014·Neuromuscular Disorders : NMD·Kathryn N NorthUNKNOWN International Standard of Care Committee for Congenital Myopathies
Feb 26, 2015·European Journal of Human Genetics : EJHG·Kristen J NowakNigel G Laing
Dec 16, 2016·Neuropathology and Applied Neurobiology·C A Sewry, C Wallgren-Pettersson
Dec 10, 2016·Prenatal Diagnosis·Michal Feingold-ZadokOrit Reish
Jul 21, 2007·Journal of Child Neurology·Karin WeissYoram Nevo
Aug 19, 2006·Human Mutation·Vilma-Lotta LehtokariCarina Wallgren-Pettersson
May 25, 2016·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Jacquelyn M EvansLeigh Anne Clark
Sep 3, 2013·Current Opinion in Neurology·Norma B RomeroNigel F Clarke
Apr 25, 2017·Journal of Neuromuscular Diseases·Josine M de Winter, Coen A C Ottenheijm
Jan 27, 2020·Journal of Muscle Research and Cell Motility·Michaela Yuen, Coen A C Ottenheijm
Nov 28, 2017·Molecular Genetics & Genomic Medicine·Chamindra G KonersmanShailendra B Patel
Nov 19, 2015·Orphanet Journal of Rare Diseases·Emily J ToddGianina Ravenscroft

❮ 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.

Related Papers

Proceedings of the National Academy of Sciences of the United States of America
Katarina PelinCarina Wallgren-Pettersson
Neuromuscular Disorders : NMD
Katarina PelinCarina Wallgren-Pettersson
© 2022 Meta ULC. All rights reserved