Neurogenetics最新文献_第4页

Giant axonal neuropathy: a rare inherited neuropathy with a novel mutation. 巨轴突性神经病：一种罕见的遗传性神经病，伴有新型突变。

IF 1.6 4区医学

Neurogenetics Pub Date : 2024-11-27 DOI: 10.1007/s10048-024-00790-8

Bita Poorshiri, Neda Jabbarpour, Mohammad Barzegar, Mortaza Bonyadi, Zakiyeh Ebadi

{"title":"Giant axonal neuropathy: a rare inherited neuropathy with a novel mutation.","authors":"Bita Poorshiri, Neda Jabbarpour, Mohammad Barzegar, Mortaza Bonyadi, Zakiyeh Ebadi","doi":"10.1007/s10048-024-00790-8","DOIUrl":"10.1007/s10048-024-00790-8","url":null,"abstract":"We present a 7.5-year-old boy born to a family from the Iranian Azeri Turkish ethnic group with a consanguineous marriage who presents with a unique set of symptoms, suggesting Giant Axonal Neuropathy. He achieved independent walking at age 3 years, with frequent falling during running. Physical and neurological examinations reveal curly blond hair, generalized muscle atrophy, slow speech and difficulty swallowing solid food, foot drop, pes cavus, hammertoe deformities; reduced deep tendon reflexes, clumsy gait, impaired sense of position, and intention tremors.This comprehensive report significantly expands the clinical and mutational spectrum of Giant Axonal Neuropathy. Whole Exome Sequencing (WES) analysis revealed a novel homozygous variant (NC_000016.10(NM_022041.3):c.2T > C) in the GAN gene, confirmed by Sanger sequencing. Segregation analysis showed that the parents were heterozygous for the variant. The variant was absent in a cohort of 430 healthy individuals from the same ethnic group and in other published population databases such as GenomAD and the 1000 Genome. The clinical manifestations, segregation analysis, population study, and bioinformatics analysis collectively confirm the pathogenicity of variant.","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"26 1","pages":"11"},"PeriodicalIF":1.6,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142734682","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Nutrigenomics and neurological disorders: exploring diet-brain interactions for cognitive health. 营养基因组学与神经系统疾病：探索饮食与大脑的相互作用，促进认知健康。

IF 1.6 4区医学

Neurogenetics Pub Date : 2024-11-26 DOI: 10.1007/s10048-024-00791-7

Atifa Waheed, Maliha Ghaffar, Samavia Mustafa, Anam Abbas, Sana Khan, Ahmad Waheed, Hina Naz

引用次数: 0

Clinical and genetic diversity in Iranian individuals with RAPSN-related congenital myasthenic syndrome. 伊朗 RAPSN 相关先天性肌无力综合征患者的临床和遗传多样性。

IF 1.6 4区医学

Neurogenetics Pub Date : 2024-11-26 DOI: 10.1007/s10048-024-00787-3

Aida Ghasemi, Seyed Jalaleddin Hadei, Sara KamaliZonouzi, Amene Shahrokhi, Hossein Najmabadi, Shahriar Nafissi

{"title":"Clinical and genetic diversity in Iranian individuals with RAPSN-related congenital myasthenic syndrome.","authors":"Aida Ghasemi, Seyed Jalaleddin Hadei, Sara KamaliZonouzi, Amene Shahrokhi, Hossein Najmabadi, Shahriar Nafissi","doi":"10.1007/s10048-024-00787-3","DOIUrl":"https://doi.org/10.1007/s10048-024-00787-3","url":null,"abstract":"Congenital myasthenic syndromes (CMSs) are genetic disorders affecting motor function with variable symptoms. RAPSN-related CMS, caused by mutations in the RAPSN gene, leads to muscle weakness. Accurate diagnosis is essential for proper management. This study aims to analyze six Iranian families affected by RAPSN-CMS, focusing on clinical manifestations, genetic variants, treatment response, and outcomes. Clinical assessments, genetic analysis, and whole-exome sequencing were performed on the six families to identify RAPSN gene mutations. The study examined symptoms, disease severity, age of onset, treatment response, and outcomes. Treatment with pyridostigmine and salbutamol was given to assess its effectiveness. Three homozygous known variants in RAPSN gene were identified: c.491G > A in three families, c.264 C > A in two families, and c.-210 A > G in one family. Clinical assessments showed diversity in symptoms and treatment responses. Pyridostigmine and salbutamol treatment improved symptoms and quality of life. This study highlights the significance of molecular diagnosis for RAPSN-related congenital myasthenic syndromes (CMS) in Iran, marking the first comprehensive genetic analysis in the region. The identification of specific pathogenic variants underscores the unique genetic landscape of local patients. Furthermore, our long-term follow-up revealed variable treatment responses, emphasizing the need for personalized care strategies. The clinical variability among patients with identical mutations necessitates a multidisciplinary approach for effective management. By enhancing genetic awareness and refining follow-up methods, we aim to improve diagnosis accuracy and interventions, fostering better outcomes for affected families in the Iranian population.","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"26 1","pages":"9"},"PeriodicalIF":1.6,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142717910","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Analysis of Alzheimer's disease associated deleterious non-synonymous single nucleotide polymorphisms and their impacts on protein structure and function by performing in-silico methods. 通过内科学方法分析与阿尔茨海默病相关的有害非同义单核苷酸多态性及其对蛋白质结构和功能的影响。

IF 1.6 4区医学

Neurogenetics Pub Date : 2024-11-26 DOI: 10.1007/s10048-024-00786-4

Betul Akcesme, Nadia Islam, Delila Lekic, Raisa Cutuk, Nejla Basovic

{"title":"Analysis of Alzheimer's disease associated deleterious non-synonymous single nucleotide polymorphisms and their impacts on protein structure and function by performing in-silico methods.","authors":"Betul Akcesme, Nadia Islam, Delila Lekic, Raisa Cutuk, Nejla Basovic","doi":"10.1007/s10048-024-00786-4","DOIUrl":"https://doi.org/10.1007/s10048-024-00786-4","url":null,"abstract":"Alzheimer's disease (AD) is a neurodegenerative disorder that is presented with a progressive loss of memory, a decline in cognitive abilities and multiple changes in behavior. Its pathogenicity has been linked to genetic factors in approximately 60-80% of the cases specifically APOE gene family and as well as other gene families. This study utilized advanced computational biology methods to analyze AD-associated nsSNPs extracted from the NHGRI-EBI GWAS Catalog. Ensembl Variant Effect Predictor (VEP) is used to annotate the variants associated with AD. Annotated missense variants were subjected to PolyPhen-2, SNPs&Go, PredictSNP servers which were used to predict pathogenicity of selected missense variants by protein sequence information. DynaMut and DUET servers were applied to determine protein stability due to the amino acid change by integrating protein structure information. Missense variations associated with AD were annotated to 26 proteins and further analyzed in our study. Following rigorous data filtration steps, 15 candidate variants (13 proteins) were identified and subjected to sequence and structure-based analysis. Finally in this in-silico study, five deleterious non-synonymous single nucleotide polymorphisms (nsSNPs) were identified in ACKR2(V41A), APOE(R176C), ATP8B4(G395S), LAMB2(E987K), and TOMM40(R239W), and these findings were subsequently backed-up by existing in-vivo and in-vitro literature. This study not only provides invaluable insight into the intricate pathogenic mechanisms underlying AD but also offers a distinctive perspective that paves the way for future, more comprehensive investigations aimed at unraveling the molecular intricacies responsible for the development and progression of AD. Nonetheless, it is imperative that further rigorous in vivo and in vitro experiments are conducted to validate and expand upon the findings presented here.","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"26 1","pages":"8"},"PeriodicalIF":1.6,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142717909","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Mild neurodevelopmental disorder due to reduced SHMT2 enzymatic activity caused by novel compound heterozygous variants: expanding the phenotypic spectrum. 新型复合杂合变体导致的 SHMT2 酶活性降低引起的轻度神经发育障碍：扩展表型谱。

IF 1.6 4区医学

Neurogenetics Pub Date : 2024-11-26 DOI: 10.1007/s10048-024-00784-6

Hu Pan, Mei He, Xuan Luo, Juanli Hu, Xiao Mao, Yong Cheng, Zhen Liu

引用次数: 0

Epigenetic dysregulation in glioblastoma: potential pathways to precision medicine. 胶质母细胞瘤的表观遗传失调：精准医疗的潜在途径。

IF 1.6 4区医学

Neurogenetics Pub Date : 2024-11-25 DOI: 10.1007/s10048-024-00793-5

Vijeta Prakash, Reema Gabrani

引用次数: 0

Understanding pathophysiology in fragile X syndrome: a comprehensive review. 了解脆性 X 综合征的病理生理学：全面综述。

IF 1.6 4区医学

Neurogenetics Pub Date : 2024-11-25 DOI: 10.1007/s10048-024-00794-4

Juan Carlos Castillo Juárez, Alejandro Aguilar Gómez, Adrian Esteban Salatino Díaz, Gabriel Silva Arévalo

引用次数: 0

IF 1.6 4区医学

Neurogenetics Pub Date : 2024-11-22 DOI: 10.1007/s10048-024-00780-w

Álvaro de Oliveira Franco, Matheus Bernardon Morillos, Martim Tobias Bravo Leite, Marino Muxfeldt Bianchin, Carolina Machado Torres

引用次数: 0

Expansion of phenotypic and genotypic data in autism spectrum disorders due to variants in the CHD8 gene. 自闭症谱系障碍的表型和基因型数据因 CHD8 基因变异而扩大。

IF 1.6 4区医学

Neurogenetics Pub Date : 2024-11-22 DOI: 10.1007/s10048-024-00781-9

Mariia A Parfenenko, Ilya S Dantsev, Sergei V Bochenkov, Rabiat G Kuramagomedova, Natalia V Vinogradova, Mariia P Afanaseva, Olga S Groznova, Victoria Iu Voinova

{"title":"Expansion of phenotypic and genotypic data in autism spectrum disorders due to variants in the CHD8 gene.","authors":"Mariia A Parfenenko, Ilya S Dantsev, Sergei V Bochenkov, Rabiat G Kuramagomedova, Natalia V Vinogradova, Mariia P Afanaseva, Olga S Groznova, Victoria Iu Voinova","doi":"10.1007/s10048-024-00781-9","DOIUrl":"10.1007/s10048-024-00781-9","url":null,"abstract":"Autism spectrum disorders are a group of the most common disorders of neuropsychiatric development, characterized by difficulties in social interaction and adherence to stereotypic behavioral patterns. This group of conditions frequently co-occurs with intellectual disability, epilepsy, attention-deficit hyperactivity disorder, connective tissue disorders and others. Among the most common molecular-genetic causes of autism spectrum disorders are pathogenic variants in the CHD8 gene. CHD8 codes for chromodomain-helicase-DNA-binding protein 8 - a chromatin remodeler that regulates cellular proliferation and brain development in embryogenesis. 6 children and 1 adult (mother of 1 of the children) and were found to have clinically significant variants in CHD8 on whole genome sequencing (3 children and 1 adult had likely pathogenic variants, 3 children- variants of unknown significance). Their phenotype consisted of autism spectrum disorders, developmental delay, ataxia, overgrowth and other signs typically observed in patients with pathogenic variants in CHD8, as well as common comorbidities of autism spectrum disorders, such as attention-deficit hyperactivity disorder and connective tissue disorders. Additionally, 4 patients had hepatomegaly and 2- hyperbilirubinemia (1 had both) - clinical features have not been previously associated with pathogenic variants in CHD8. 2 patients also presented with cardiovascular abnormalities, primarily arrythmias and, in 1 case, cardiomyopathy- also uncharacteristic of patients with pathogenic variants in CHD8. Further research is required to determine the mechanisms underlying the abovementioned clinical features, which are likely carried out through complex interactions between CHD8 and other regulatory proteins.","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"26 1","pages":"4"},"PeriodicalIF":1.6,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142689694","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Dystrophinopathy patient data as a guide to interpretation of pregestational female population screening for DMD gene variants. 以肌营养不良症患者数据为指导，解读孕前女性人群 DMD 基因变异筛查。

IF 1.6 4区医学

Neurogenetics Pub Date : 2024-11-20 DOI: 10.1007/s10048-024-00788-2

Lena Sagi-Dain, Annemieke Aartsma-Rus, Moran Echar, Julia Grinshpun-Cohen, Amihood Singer

{"title":"Dystrophinopathy patient data as a guide to interpretation of pregestational female population screening for DMD gene variants.","authors":"Lena Sagi-Dain, Annemieke Aartsma-Rus, Moran Echar, Julia Grinshpun-Cohen, Amihood Singer","doi":"10.1007/s10048-024-00788-2","DOIUrl":"10.1007/s10048-024-00788-2","url":null,"abstract":"Pregestational population screening of healthy females for copy number variants in DMD gene has raised numerous challenges regarding the interpretation and disclosure of these findings. Our objective was to analyze data from a local dystrophinopathy patient database, in comparison to population screening results. Utilizing the \"Little steps\" association registry for children with dystrophinopathy, we classified genetic findings (out-of-frame, in-frame, or difficult-to-predict) in 231 DMD and 90 BMD male patients. A comparison was made with a previously published cohort of 162 female carriers identified through population screening. Duplications classified as \"difficult to predict\" were absent in DMD/BMD patients, as opposed to 45.1% of women analyzed in the scope of population screening (p < 0.0001). While the distribution of deletions did not differ between the groups, significantly higher proportion of duplications initiated at the proximal hot spot in the DMD/BMD cohort (87.1%), vs. only 11.7% in women analyzed through population screening (p = 0.0038). Notably, duplications initiating in the dp427c promoter area were noted only in the latter cohort (n = 62). Local databases of dystrophinopathy patients can facilitate analysis and reporting of pregestational female population screening results. These conclusions facilitate future introductions of population screening genetic tests for diseases with variable presentation.","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"26 1","pages":"2"},"PeriodicalIF":1.6,"publicationDate":"2024-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142677853","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0