scholarly journals A Chinese patient with developmental and epileptic encephalopathies (DEE) carrying a TRPM3 gene mutation: a paediatric case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Qingyun Kang ◽  
Liming Yang ◽  
Hongmei Liao ◽  
Sai Yang ◽  
Xiaojun Kuang ◽  
...  
Keyword(s):  
Case Report ◽  
Missense Mutation ◽  
De Novo ◽  
Clinical Phenotype ◽  
Chinese Patient ◽  
Case Presentation ◽  
Epileptic Encephalopathies ◽  
Surface Receptors ◽  
Paediatric Case ◽  
Coding Variants

Abstract Background Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of chronic encephalopathies characterized by epilepsy with comorbid intellectual disability that are frequently associated with de novo nonsynonymous coding variants in ion channels, cell-surface receptors, and other neuronally expressed genes. Mutations in TRPM3 were identified as the cause of DEE. We report a novel patient with DEE carrying a de novo missense mutation in TRPM3, p.(S1202T); this missense mutation has never been reported. Case presentation A 7-year and 2-month-old Chinese patient who had recurrent polymorphic seizures was clinically diagnosed with DEE. A de novo missense mutation in TRPM3, which has not yet been reported, was identified in this case. The patient had a clinical phenotype consistent with previous reports. Conclusions These findings could expand the spectrum of TRPM3 mutations and might also support that de novo substitutions of TRPM3 are a cause of DEE.

scholarly journals A Novel Heterozygous Missense Variant in YWHAG Gene Cause Early-Onset Epilepsy in a Chinese Family

2020 ◽  
Author(s):  
Zhi Yi ◽  
Zhenfeng Song ◽  
Jiao Xue ◽  
Chengqing Yang ◽  
Fei Li ◽  
...  
Keyword(s):  
Early Onset ◽  
Seizure Control ◽  
De Novo ◽  
Missense Variant ◽  
Epileptic Encephalopathy ◽  
Chinese Family ◽  
Gene Variants ◽  
Case Presentation ◽  
Epileptic Encephalopathies ◽  
Refractory Seizures

Abstract Background: Developmental and epileptic encephalopathies (DEE) are a heterogeneous group of severe disorders which are characterized by early-onset, refractory seizures and developmental slowing or regression. Genetic variations are significant causes for them. De novo variants in an increasing number of candidate genes have been found to be causal. YWHAG gene variants have been reported to cause developmental and epileptic encephalopathy 56 (DEE56). Case presentation: Here, we report a novel heterozygous missense variant c.170G>A (p.R57H) in YWHAG gene cause early-onset epilepsy in a Chinese family. Both the proband and his mother exhibit early onset seizures, intellectual disability, developmental delay. While the proband achieve seizure control with sodium valproate, his mother's seizures were not well controlled. Conclusions: Our report further confirming the haploinsufficiency of YWHAG results in developmental and epileptic encephalopathies.

Epilepsy with a de novo missense mutation in the sodium channel a1 subunit: A case report

2006 ◽  
Vol 95 (12) ◽  
pp. 1703-1706 ◽  
Author(s):  
Evangelia Stefanaki ◽  
Vasiliki Aggelakou ◽  
M. Orfanou ◽  
E. Kokori ◽  
S. Boutoufianakis
Keyword(s):  
Case Report ◽  
Sodium Channel ◽  
Missense Mutation ◽  
De Novo ◽  
Subunit A

scholarly journals Giant Intrapericardial Bronchogenic Cyst Associated with Congestive Heart Failure and Atrial Fibrillation:  A Case Report

2020 ◽  
Author(s):  
Javier Maldonado ◽  
German Molina ◽  
Francisco M- Rincón T ◽  
Lina M. Acosta Buitrago ◽  
Carlos J- Perez Rivera
Keyword(s):  
Heart Failure ◽  
Atrial Fibrillation ◽  
Congestive Heart Failure ◽  
Differential Diagnosis ◽  
Case Report ◽  
Bronchogenic Cyst ◽  
De Novo ◽  
Pathological Findings ◽  
Case Presentation ◽  
Bronchogenic Cysts

Abstract Background: Large intracardiac bronchogenic cysts are rare mediastinal masses, however they must always be considered in the differential diagnosis of heart failure. Case Presentation: We present a 60-year-old female patient with de novo atrial fibrillation and heart failure, resulting from an incidental large intrapericardial mass. The patient underwent successful surgical resection, with pathological findings confirming a bronchogenic cyst.Conclusions: Large bronchogenic cysts located intrapericardially are very rare, however they should be included in the differential diagnosis of patients presenting with atrial fibrillation and heart failure.

scholarly journals Case Report: Identification of a de novo Missense Mutation in the F8 Gene, p.(Phe690Leu)/c.2070C > A, Causing Hemophilia A: A Case Report

2021 ◽  
Vol 11 ◽  
Author(s):  
Haiyan Bai ◽  
Xia Xue ◽  
Li Tian ◽  
Xi Tong Liu ◽  
Qian Li
Keyword(s):  
Case Report ◽  
Missense Mutation ◽  
Sanger Sequencing ◽  
Hemophilia A ◽  
De Novo ◽  
Pathogenic Mutation ◽  
Site Amplification ◽  
Monogenic Disease ◽  
Inherited Disorders ◽  
Preimplantation Genetic Testing

Hemophilia A is an X-linked recessive bleeding disorder caused by various types of pathological defects in the factor VIII gene (F8/FVIII). Preimplantation genetic testing for monogenic disease (PGT-M) is a powerful tool to tackle the transmission of monogenic inherited disorders from generation to generation. In our case, a mutation in F8 had passed through female carriers in a hemophilia A family and resulted in two male patients with hemophilia A. To identify the etiological genetic variants of F8, next-generation sequencing (NGS) was used for chromosome copy number variation detection, Sanger sequencing to verify mutation sites, single nucleotide polymorphism (SNP) for site amplification, and sequencing to validate the genetic linkage. Finally, a novel missense mutation, p. (Phe690Leu)/c.2070C > A, occurring in exon 13 of F8, was screened out as a pathogenic mutation. Following this, an F8 normal euploid blastocyst was transferred. At the 18th week, the pregnant mother underwent amniocentesis, NGS, Sanger sequencing, and SNP typing that further confirmed that the fetus had a healthy genotype. After delivery, a neonatal blood sample was sent for FVIII concentration detection, and the result established that the FVIII protein was rescued to a nearly average level. We first identified a new type of pathogenic mutation in F8, which has not been previously reported, selected a genetically healthy progeny for an affected family, and provided valuable knowledge of the diagnosis and treatment of hemophilia A.

scholarly journals A Novel de Novo sp6 Mutation Causes Severe Hypoplastic Ame-Logenesis Imperfecta

Genes ◽  
2021 ◽  
Vol 12 (3) ◽  
pp. 346
Author(s):  
Youn Jung Kim ◽  
Yejin Lee ◽  
Hong Zhang ◽  
Ji-Soo Song ◽  
Jan C-C. Hu ◽  
...  
Keyword(s):  
Western Blot ◽  
Missense Mutation ◽  
Autosomal Dominant ◽  
De Novo ◽  
Clinical Phenotype ◽  
Tooth Enamel ◽  
Genetic Disorders ◽  
Mrna Level ◽  
Amelogenesis Imperfecta ◽  
Wild Type

Amelogenesis imperfecta (AI) is a heterogeneous group of rare genetic disorders affecting tooth enamel formation. Here we report an identification of a novel de novo missense mutation [c.817_818delinsAT, p.(Ala273Met)] in the SP6 gene, causing non-syndromic autosomal dominant AI. This is the second paper on amelogenesis imperfecta caused by SP6 mutation. Interestingly the identified mutation in this study is a 2-bp variant at the same nucleotide positions as the first report, but with AT instead of AA insertion. Clinical phenotype was much more severe compared to the previous report, and western blot showed an extremely decreased level of mutant protein compared to the wild-type, even though the mRNA level was similar.

scholarly journals A Chinese Patient with Spastic Paraplegia Type 4 with a De Novo Mutation in the SPAST Gene

2021 ◽  
Vol 2021 ◽  
pp. 1-9
Author(s):  
Li Xu ◽  
Zijuan Peng ◽  
Chunhui Zhou ◽  
Jiqing Wang ◽  
Hunjin Luo ◽  
...  
Keyword(s):  
Missense Mutation ◽  
De Novo ◽  
Chinese Patient ◽  
Chinese Woman ◽  
De Novo Mutation ◽  
Spastic Paraplegia ◽  
Gene Segregation ◽  
Whole Exome ◽  
The Family ◽  
Family Gene

Background. Spastic paraplegia type 4 (SPG4) is the most common type of hereditary spastic paraplegia (HSP) caused by mutations in the SPAST gene. Case Presentation. We report the case of a 27-year-old pregnant Chinese woman with HSP in whom we identified a missense mutation in the SPAST gene (c.1496G>A, p.Arg499His) and a nonsense mutation in the NEFH gene (c.289G>T, p.Glu97 ∗ ) via whole-exome sequencing; this finding corroborated that of Sanger sequencing. The patient exhibited the pure SPG4 phenotype with onset during childhood. The SPAST mutation was absent in the parents and paternal relatives. However, the NEFH mutation was identified in five people with no clinical phenotype. Based on theoretical conjecture and the family gene segregation information, we concluded that the SPAST mutation, but not the NEFH mutation, accounted for the proband’s phenotype. Eventually, the woman gave birth to a healthy baby girl with the NEFH mutation. Conclusion. In this report, we identified a missense mutation in the SPAST gene (p.Arg499His) in a 27-year-old pregnant Chinese woman with HSP. We believe that this study expands the knowledge about the clinical parameters and mutation spectrum of SPG4.

scholarly journals Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Anastasiya Aleksandrovna Kozina ◽  
Elena Grigorievna Okuneva ◽  
Natalia Vladimirovna Baryshnikova ◽  
Inessa Dmitrievna Fedonyuk ◽  
Alexey Aleksandrovich Kholin ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Clinical Phenotype ◽  
Young Female ◽  
Epileptic Encephalopathy ◽  
Molecular Characteristics ◽  
Seizure Onset ◽  
Case Presentation ◽  
Exon 1 ◽  
Patients With Epilepsy

Abstract Background Epilepsy with intellectual disability limited to females (Epileptic encephalopathy, early infantile, 9; EIEE9) is a rare early infantile epileptic encephalopathy characterized by an unusual X-linked inheritance: females with heterozygous mutations are affected, while hemizygous males are not. Case presentation We describe the clinical and molecular characteristics of 2 Russian patients with EIEE9 (females, ages 3 years and 7 years). In these patients seizures developed at the age of 3 years. Additionally, for our patients and for cases described in the literature we searched for a possible relationship between the type and localization of the mutation and the EIEE9 clinical phenotype. Conclusions We identified two novel PCDH19 mutations in EIEE9 patients: a missense mutation in exon 1 (c.1236C > A, p.Asp412Glu) and a frameshift in exon 3 (c.2386_2387insGTCT, p.Thr796fs). We conclude that the age of seizure onset and the presence of intellectual disability may depend not on the type and localization of PCDH19 mutations, but on the X-inactivation status. The study also highlights the need to screen for EIEE9 among young female epilepsy patients.

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