scholarly journals Brugada syndrome with a novel missense mutation D252N in SCN5A gene: a case report

2021 ◽  
Vol 63 (7) ◽  
pp. 1-6
Author(s):  
Duy Phuong Dang ◽  
◽  
Minh Ha Nguyen ◽  
Doan Loi Do ◽  
Van Khanh Tran ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Brugada Syndrome ◽  
Autosomal Dominant ◽  
Clinical Symptoms ◽  
Novel Mutation ◽  
Ecg Changes ◽  
Functional Protein ◽  
Conserved Gene ◽  
Scn5a Gene

Brugada syndrome is an inherited cardiac arrhythmia that follows autosomal dominant transmission and can cause sudden death. This paper reported a case of Brugada syndrome in a 43-year-old male patient with no clinical symptoms. Brugada-type 2-ECG changes were accidentally detected. Flecainide test was done and proved positive. Gene analysis revealed a novel missense mutation in the SCN5A gene with a genetic variation of D252N. This novel mutation has not been reported on any genetic databases related to Brugada syndrome. Functional protein analysis software suggested that the mutation occurs in the highly conserved gene and probably has a damaging effect. This is the first Brugada syndrome case reported with a mutation in the SCN5A gene in Vietnam.

scholarly journals Clinical spectrum in three families with familial hemiplegic migraine type 2 including a novel mutation in the ATP1A2 gene

Cephalalgia ◽  
2013 ◽  
Vol 34 (3) ◽  
pp. 183-190 ◽  
Author(s):  
Christian Roth ◽  
Tobias Freilinger ◽  
Georgi Kirovski ◽  
Juliane Dunkel ◽  
Yogesh Shah ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Clinical Symptoms ◽  
Novel Mutation ◽  
Epileptic Seizures ◽  
Familial Hemiplegic Migraine ◽  
Type Ii ◽  
Single Patient ◽  
Hemiplegic Migraine ◽  
Atp1a2 Gene

Introduction Familial hemiplegic migraine (FHM) is a rare subtype of migraine with transient hemiplegic aura. Patients and methods We describe three unrelated families with familial hemiplegic migraine type II (FHM2). Retrospectively, information on 47 family members could be obtained, 15 by personal examination and 32 by indirect anamnesis from relatives. Genetic analyses were performed in 13 patients. Results One family had a novel missense mutation in the ATP1A2 gene (c.659C>T, p.Ser220Leu) that segregated with the phenotype in three generations. Two further unrelated families with different ethnic backgrounds (one from Germany and one from Russia) had a missense mutation that has not been described as yet in FHM, but occurred in only a single patient with sporadic hemiplegic migraine (c.2723G>A, p.Arg908Gln). Clinically the patients had severe attacks lasting up to several weeks as well as epileptic seizures. Three patients with a proven mutation in the ATP1A2 gene clinically presented without hemiparesis. Furthermore, there was a possible relation of FHM2 to mental retardation in another two patients. Conclusion Clinical symptoms may last for several weeks in some patients. Patients with FHM2 may also present without hemiplegia. Therefore, the full family history has to be taken into account to establish the diagnosis of FHM.

A Chinese family with familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2

Cephalalgia ◽  
2019 ◽  
Vol 39 (11) ◽  
pp. 1382-1395
Author(s):  
Wenjing Tang ◽  
Meichen Zhang ◽  
Enchao Qiu ◽  
Shanshan Kong ◽  
Yingji Li ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Novel Mutation ◽  
Clinical Manifestations ◽  
Pathogenic Mutation ◽  
Familial Hemiplegic Migraine ◽  
Chinese Family ◽  
Hemiplegic Migraine ◽  
Pathogenic Potential ◽  
The Family

Background ATP1A2 has been identified as the genetic cause of familial hemiplegic migraine type 2. Over 80 ATP1A2 mutations have been reported, but no data from Chinese family studies has been included. Here, we report the first familial hemiplegic migraine type 2 Chinese family with a novel missense mutation. Methods Clinical manifestations in the family were recorded. Blood samples from patients and the unaffected members were collected for whole-exome sequencing to identify the pathogenic mutation. Seven online softwares (SIFT, PolyPhen-2, PROVEAN, PANTHER, MutationTaster2, MutationAssessor and PMut) were used for predicting the pathogenic potential of the mutation. PredictProtein, Jpred 4 and PyMOL were used to analyze structural changes of the protein. The mutation function was further tested by Methylthiazolyldiphenyl-tetrazolium bromide (MTT) assay. Results All patients in the family had typical hemiplegic migraine attacks. Co-segregation of the mutation with the migraine phenotype in four generations, with 10 patients, was completed. The identified novel mutation, G762S in ATP1A2, exhibited the disease-causing feature by all the predictive softwares. The mutation impaired the local structure of the protein and decreased cell viability. Conclusion G762S in ATP1A2 is a novel pathogenic mutation identified in a Chinese family with familial hemiplegic migraine, which causes loss of function by changing the protein structure of the Na+/K+-ATPase α2 subunit.

A novel mutation in the SCN5A gene is associated with Brugada syndrome

Life Sciences ◽  
2007 ◽  
Vol 80 (8) ◽  
pp. 716-724 ◽  
Author(s):  
Dong-Jik Shin ◽  
Eunmin Kim ◽  
Sang-Bum Park ◽  
Won-Cheoul Jang ◽  
Yoonsun Bae ◽  
...  
Keyword(s):  
Brugada Syndrome ◽  
Novel Mutation ◽  
Scn5a Gene

scholarly journals Diagnosis Sindrom Brugada

2015 ◽  
pp. 96-101
Author(s):  
Edward Faisal
Keyword(s):  
Sudden Death ◽  
Sodium Channel ◽  
Brugada Syndrome ◽  
Autosomal Dominant ◽  
Autosomal Dominant Disease ◽  
Medical Examination ◽  
Diagnostic Tools ◽  
Dominant Disease ◽  
Scn5a Gene

Brugada syndrome is an inherited autosomal dominant disease that cause sudden death, which related with mutation of SCN5A gene, ? subunit of sodium channel. The risk Brugada syndrome in male is 8 times more than females. The average age is 40 years old, which can happen between age 1 to 77 years old. The Incidence is 5 to 66 per 10.000 people. The golden diagnostic tools is ECG, an abnormality QRS-T found in lead V1-V3. I report a case of Brugada syndrome with neither sign nor symptoms. The disease coincidental in routine medical examination.

scholarly journals Brugada syndrome with a novel missense mutation in SCN5A gene: A case report from Bangladesh

2014 ◽  
Vol 66 (1) ◽  
pp. 104-107 ◽  
Author(s):  
Md. Zahidus Sayeed ◽  
Md. Abdus Salam ◽  
Md. Zahirul Haque ◽  
A.K.M. Monwarul Islam
Keyword(s):  
Case Report ◽  
Missense Mutation ◽  
Brugada Syndrome ◽  
Scn5a Gene

scholarly journals Case report of novel CACNA1A gene mutation causing episodic ataxia type 2

2017 ◽  
Vol 5 ◽  
pp. 2050313X1770604 ◽  
Author(s):  
David Alan Isaacs ◽  
Michael J Bradshaw ◽  
Kelly Brown ◽  
Peter Hedera
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Symptomatic Improvement ◽  
Episodic Ataxia ◽  
Episodic Ataxia Type 2 ◽  
History Of ◽  
Cacna1a Gene ◽  
Episodic Ataxia Type

Background: Episodic ataxia type 2 (OMIM 108500) is an autosomal dominant channelopathy characterized by paroxysms of ataxia, vertigo, nausea, and other neurologic symptoms. More than 50 mutations of the CACNA1A gene have been discovered in families with episodic ataxia type 2, although 30%–50% of all patients with typical episodic ataxia type 2 phenotype have no detectable mutation of the CACNA1A gene. Case: A 46-year-old Caucasian man, with a long history of bouts of imbalance, vertigo, and nausea, presented to our hospital with 2 weeks of ataxia and headache. Subsequent evaluation revealed a novel mutation in the CACNA1A gene: c.1364 G > A Arg455Gln. Acetazolamide was initiated with symptomatic improvement. Conclusion: This case report expands the list of known CACNA1A mutations associated with episodic ataxia type 2.

scholarly journals A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Asuka Hori ◽  
Ohsuke Migita ◽  
Rika Kawaguchi-Kawata ◽  
Yoko Narumi-Kishimoto ◽  
Fumio Takada ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Congenital Malformations ◽  
Autosomal Dominant ◽  
Binding Region ◽  
Autosomal Dominant Disorder ◽  
Joint Contractures ◽  
Skeletal Abnormalities ◽  
The Third ◽  
Bone Deformities

AbstractFrontometaphyseal dysplasia (FMD) type 2 is an autosomal dominant disorder characterized by skeletal abnormalities and caused by MAP3K7 mutation. We identified a novel missense mutation in TAB2 associated with FMD in a child with multiple congenital malformations. This case was diagnosed as FMD due to joint contractures and bone deformities. This is the third report of FMD caused by a TAB2 mutation located in the TAK1-binding region.

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.

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