Novel mutations at carboxyl terminus of CIC-1 channel in myotonia congenita

Acta Neurologica Scandinavica
H-C KuoC-C Huang

Abstract

Myotonia congenita (MC), caused by mutations in the muscle chloride channel (CLCN1) gene, can be inherited dominantly or recessively. The mutations at the carboxyl terminus of the CLCN1 gene have been identified in MC patients, but the functional implication of these mutations is unknown. Direct sequencing of polymerase chain reaction products covering the whole coding region of the CLCN1 gene was performed in a MC family. This study was designed to investigate the clinical manifestations and genetic analysis of the CLCN1 gene. We identified two novel mutations, 2330delG and 1892C>T, from a genetic screening of the CLCN1 gene in the MC family. The 2330delG mutant allele producing a fs793X truncated protein was identified in a heterozygous state in all the patients. The 1892C>T nucleotide change induced a missense mutation (T631I) found in several asymptomatic individuals, indicating that it may not be associated with MC. Intriguingly, the 2330delG mutation was also found in an asymptomatic subject who also carried the 1892C>T mutation. The data indicate that the fs793X mutant protein causes dominantly inherited MC. Because the mutation has been found in a recessive pedigree, the fs793X mutation may have a dual inheritance pattern.

References

Sep 26, 1996·Nature·R E MiddletonC Miller
Jan 1, 1997·The Journal of General Physiology·C FahlkeA L George
Aug 15, 1997·The Journal of Biological Chemistry·T Schmidt-Rose, T J Jentsch
Mar 21, 1998·The Journal of Biological Chemistry·D H HryciwA H Bretag
Oct 23, 2002·Brain : a Journal of Neurology·Fen-Fen WuChristoph Fahlke
Jan 14, 2004·The Journal of Biological Chemistry·Simon HebeisenChristoph Fahlke
Jan 16, 2004·The Journal of Physiology·Raúl EstévezThomas J Jentsch
May 27, 2004·European Journal of Human Genetics : EJHG·Morten DunøMarianne Schwartz
Aug 18, 2004·Journal of Neurology·Shuo-Bin JouKuang-Ming Hsiao
Mar 24, 2005·Muscle & Nerve·Eskild Colding-Jørgensen

❮ Previous
Next ❯

Citations

Dec 22, 2011·Journal of Biomedicine & Biotechnology·Chih-Yung Tang, Tsung-Yu Chen
Aug 12, 2015·Channels·Xiao-Li LiuLi Cao
Jun 27, 2008·Neuromuscular Disorders : NMD·Jean-Marc BurgunderErwin Sigel
Nov 14, 2006·Biochemical and Biophysical Research Communications·Min-Jon LinKuang-Ming Hsiao
Sep 22, 2007·Current Opinion in Neurology·Aisling M RyanMichael G Hanna

❮ 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.