scholarly journals Slow‐channel myasthenia due to novel mutation in M2 domain of AChR delta subunit

2019 ◽  
Vol 6 (10) ◽  
pp. 2066-2078 ◽  
Author(s):  
Xin‐Ming Shen ◽  
Margherita Milone ◽  
Hang‐Long Wang ◽  
Brenda Banwell ◽  
Duygu Selcen ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Slow Channel ◽  
Delta Subunit

Slow-Channel Congenital Myasthenic Syndrome due to a Novel Mutation in the Acetylcholine Receptor Alpha Subunit in a South Asian: A Case Report

2021 ◽  
Vol 8 (1) ◽  
pp. 163-167
Author(s):  
Inuka Kishara Gooneratne ◽  
Shanika Nandasiri ◽  
Susan Maxwell ◽  
Richard Webster ◽  
Judith Cossins ◽  
...  
Keyword(s):  
Acetylcholine Receptor ◽  
Genetic Basis ◽  
Novel Mutation ◽  
Alpha Subunit ◽  
Congenital Myasthenic Syndrome ◽  
Heterozygous Mutation ◽  
Slow Channel ◽  
Genes Encoding ◽  
Functional Defect ◽  
Myasthenic Syndrome

Congenital myasthenic syndromes (CMS) result from genetic mutations that cause aberrations in structure and/or function of proteins involved in neuromuscular transmission. The slow-channel CMS (SCCMS) is an autosomal dominant postsynaptic defect caused by mutations in genes encoding alpha, beta, delta, or epsilon subunits of the acetylcholine receptor resulting in a functional defect which is an increase of the opening time of the receptor. We report a case of SCCMS due to a heterozygous mutation in the M2 domain of the AChR alpha subunit - CHRNA1:ENST00000348749.6:exon7:c.806T>G:p.Val269Gly and corresponding kinetic defect. A substitution of valine with phenylalanine in the same position has been previously described. This is the first reported case of a new CHRNA1 variant in a patient with SCCMS from South Asia. We also highlight the phenotype that would favour a genetic basis over an autoimmune one, in an adult presenting with fatigable weakness.

scholarly journals Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms

2002 ◽  
Vol 51 (1) ◽  
pp. 102-112 ◽  
Author(s):  
Christopher M. Gomez ◽  
Ricardo A. Maselli ◽  
Bhupinder P. S. Vohra ◽  
Manuel Navedo ◽  
Joel R. Stiles ◽  
...  
Keyword(s):  
Slow Channel ◽  
Delta Subunit ◽  
Severe Weakness

Efficacy of salbutamol monotherapy in slow‐channel congenital myasthenic syndrome caused by a novel mutation in CHRND

2021 ◽  
Author(s):  
Nozomu Tawara ◽  
Satoshi Yamashita ◽  
Koutaro Takamatsu ◽  
Yoshimune Yamasaki ◽  
Akihiro Mukaino ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Congenital Myasthenic Syndrome ◽  
Slow Channel ◽  
Myasthenic Syndrome

Congenital mirror movements in a family with a novel mutation in the DCC gene

2011 ◽  
Vol 42 (S 01) ◽  
Author(s):  
GC Korenke ◽  
M Wagner ◽  
A Maak ◽  
G Rosenberger ◽  
K Kutsche
Keyword(s):  
Novel Mutation ◽  
Mirror Movements ◽  
Dcc Gene

Danon Disease: Clinical Presentation and Diagnostic Workup in a Case of a Male Patient with a Novel Mutation in the LAMP2 Gene

2016 ◽  
Vol 47 (S 01) ◽  
Author(s):  
A. Dieckmann ◽  
F. Majer ◽  
H. Hulkova ◽  
M. Farr ◽  
T. Kalina ◽  
...  
Keyword(s):  
Male Patient ◽  
Clinical Presentation ◽  
Novel Mutation ◽  
Diagnostic Workup ◽  
Danon Disease ◽  
Lamp2 Gene

A Novel Mutation Glyl672→Arg in Type 2A and a Homozygous Mutation in Type 2B von Willebrand Disease

1996 ◽  
Vol 76 (02) ◽  
pp. 253-257 ◽  
Author(s):  
Takeshi Hagiwara ◽  
Hiroshi Inaba ◽  
Shinichi Yoshida ◽  
Keiko Nagaizumi ◽  
Morio Arai ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Novel Mutation ◽  
Point Mutations ◽  
Japanese Patients ◽  
Von Willebrand Disease ◽  
Homozygous Mutation ◽  
Missense Mutations ◽  
Reaction Products ◽  
Type 3 ◽  
Von Willebrand

SummaryGenetic materials from 16 unrelated Japanese patients with von Willebrand disease (vWD) were analyzed for mutations. Exon 28 of the von Willebrand factor (vWF) gene, where point mutations have been found most frequent, was screened by various restriction-enzyme analyses. Six patients were observed to have abnormal restriction patterns. By sequence analyses of the polymerase chain-reaction products, we identified a homozygous R1308C missense mutation in a patient with type 2B vWD; R1597W, R1597Q, G1609R and G1672R missense mutations in five patients with type 2A; and a G1659ter nonsense mutation in a patient with type 3 vWD. The G1672R was a novel missense mutation of the carboxyl-terminal end of the A2 domain. In addition, we detected an A/C polymorphism at nucleotide 4915 with HaeIII. There was no particular linkage disequilibrium of the A/C polymorphism, either with the G/A polymorphism at nucleotide 4391 detected with Hphl or with the C/T at 4891 detected with BstEll.

Characterization of the Original Christmas Disease Mutation (Cysteine 206 → Serine): From Clinical Recognition to Molecular Pathogenesis

1992 ◽  
Vol 67 (01) ◽  
pp. 063-065 ◽  
Author(s):  
Sherryl A M Taylor ◽  
Jacalyn Duffin ◽  
Cherie Cameron ◽  
Jerome Teitel ◽  
Bernadette Garvey ◽  
...  
Keyword(s):  
Nucleotide Substitution ◽  
Novel Mutation ◽  
Factor Ix ◽  
Causative Mutation ◽  
Coding Region ◽  
Body Of Knowledge ◽  
Polymerase Chain ◽  
Splice Junctions

SummaryChristmas disease was first reported as a distinct clinical entity in two manuscripts published in 1952 (1, 2). The eponym associated with this disorder, is the surname of the first patient examined in detail and reported by Biggs and colleagues in a paper describing the clinical and laboratory features of seven affected individuals (3). This patient has severe factor IX coagulant deficiency (less than 0.01 units/ml) and no detectable circulating factor IX antigen (less than 0.01 units/ml). Coding sequence and splice junctions of the factor IX gene from this patient have been amplified in vitro through the polymerase chain reaction (PCR). One nucleotide substitution was identified at nucleotide 30,070 where a guanine was replaced by a cytosine. This mutation alters the amino acid encoded at position 206 in the factor IX protein from cysteine to serine. The non conservative nature of this substitution, the absence of this change in more than 200 previously sequenced factor IX genes and the fact that the remainder of the coding region of this gene was normal, all provide strong circumstantial evidence in favour of this change being the causative mutation in this patient. The molecular characterization of this novel mutation in the index case of Christmas disease, contributes to the rapidly expanding body of knowledge pertaining to Christmas disease pathogenesis.

A NOVEL MUTATION IN THE SCO2 GENE IN A NEONATE WITH FATAL INFANTILE CARDIOENCEPHALOMYOPATHY AND COX DEFICIENCY

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
C Bellini ◽  
D Cassandrini ◽  
C Savioli ◽  
D Massocco ◽  
M Marasini ◽  
...  
Keyword(s):  
Novel Mutation
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