A nonsense mutation in the SCN9A gene in congenital insensitivity to pain.

Dermatology : International Journal for Clinical and Investigative Dermatology
Mazen KurbanAngela M Christiano

Abstract

Congenital insensitivity to pain (CIP) (OMIM 243000) is a rare autosomal-recessive disorder. Clinically, CIP is characterized by insensitivity to all modalities of pain except neuropathic pain, and recurrent injuries frequently go unnoticed. CIP is caused by mutations in the SCN9A gene encoding for the Na1.7 channel. We analyzed the DNA from members of a consanguineous Pakistani family for mutations in the SCN9A gene through direct sequencing after performing linkage studies. We identified a novel missense mutation designated R523X in all affected individuals. A screening assay ruled out the possibility of polymorphism. We identified a novel mutation in the Na1.7 channel leading to CIP, extending the spectrum of mutations in the Na1.7 channel, and enhancing our understanding of the physiology of pain.

References

Jun 6, 1997·The Journal of Biological Chemistry·L SangameswaranJ C Hunter
Mar 21, 2000·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·S G Waxman
Apr 3, 2001·American Journal of Human Genetics·J P DrenthP Heutink
Aug 7, 2001·The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry·L L Isom
Jun 16, 2005·The Journal of Investigative Dermatology·Joost P H DrenthJan B M J Jansen
Aug 23, 2005·Molecular Pain·Mohammed A NassarJohn N Wood
Jan 5, 2006·Annals of Neurology·Chongyang HanStephen G Waxman
Dec 1, 2006·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·T Patrick HartyStephen G Waxman
Dec 15, 2006·Nature·James J CoxC Geoffrey Woods
Jun 29, 2007·Human Molecular Genetics·Sultan AhmadJohannes J Krupp
Oct 24, 2007·Trends in Neurosciences·Sulayman D Dib-HajjStephen G Waxman
Dec 7, 2007·The Journal of Clinical Investigation·Joost P H Drenth, Stephen G Waxman
Mar 24, 2009·Pain·K B NilsenJ Aasly

❮ Previous
Next ❯

Citations

Nov 10, 2011·Brain : a Journal of Neurology·David Borsook
Nov 7, 2012·Journal of Neurology, Neurosurgery, and Psychiatry·Christopher J KleinPeter J Dyck
Jan 1, 2012·Scientifica·Michael H Ossipov
Sep 5, 2012·ChemMedChem·Antonio NardiAchim Kless
Oct 14, 2014·Case Reports in Neurological Medicine·Leema Reddy PeddareddygariRaji P Grewal
Feb 5, 2013·Biochemical and Biophysical Research Communications·Mark EstacionStephen G Waxman
Oct 27, 2016·Neuroscience·Katerina Zorina-LichtenwalterL Diatchenko
Jul 7, 2018·Journal of the Peripheral Nervous System : JPNS·Margherita MarchiGiuseppe Lauria
Dec 21, 2018·Journal of the Peripheral Nervous System : JPNS·Maurice SopacuaCatharina G Faber
Dec 13, 2012·Nature Reviews. Neuroscience·Sulayman D Dib-HajjStephen G Waxman
Dec 15, 2017·Pain·Katerina Zorina-LichtenwalterLuda Diatchenko
Mar 7, 2020·Hand : Official Journal of the American Association for Hand Surgery·Michelle SpiteriHenk Giele
Jul 1, 2020·Pflügers Archiv : European journal of physiology·Mark D Baker, Mohammed A Nassar
Jan 12, 2021·Channels·Robert A Neff, Alan D Wickenden

❮ 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.