scholarly journals EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia

2020 ◽  
Author(s):  
Demy J. S. Kuipers ◽  
Wim Mandemakers ◽  
Chin‐Song Lu ◽  
Simone Olgiati ◽  
Guido J. Breedveld ◽  
...  
Keyword(s):  
Early Onset ◽  
Missense Variants ◽  
Generalized Dystonia

scholarly journals Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2

2019 ◽  
Vol 5 (1) ◽  
pp. a002428 ◽  
Author(s):  
Simone Lipinski ◽  
Britt-Sabina Petersen ◽  
Matthias Barann ◽  
Agnes Piecyk ◽  
Florian Tran ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Bowel Disease ◽  
Early Onset ◽  
Missense Variants ◽  
Inflammatory Bowel

Early Onset Generalized Dystonia and Macrocephaly: Glutaric Aciduria Type 1

2017 ◽  
pp. 52-54
Author(s):  
Roberto Erro ◽  
Kailash P. Bhatia ◽  
Kailash P. Bhatia ◽  
Roberto Erro ◽  
Maria Stamelou
Keyword(s):  
Early Onset ◽  
Glutaric Aciduria Type ◽  
Glutaric Aciduria Type 1 ◽  
Glutaric Aciduria ◽  
Generalized Dystonia

KMT2B rare missense variants in generalized dystonia

2017 ◽  
Vol 32 (7) ◽  
pp. 1087-1091 ◽  
Author(s):  
Michael Zech ◽  
Robert Jech ◽  
Petra Havránková ◽  
Anna Fečíková ◽  
Riccardo Berutti ◽  
...  
Keyword(s):  
Missense Variants ◽  
Generalized Dystonia

Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up

2016 ◽  
Vol 32 (4) ◽  
pp. 549-559 ◽  
Author(s):  
Michael Zech ◽  
Sylvia Boesch ◽  
Angela Jochim ◽  
Sandrina Weber ◽  
Tobias Meindl ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Early Onset ◽  
Large Scale ◽  
Clinical Exome Sequencing ◽  
Generalized Dystonia

scholarly journals Genetic Analysis ofPARK2andPINK1Genes in Brazilian Patients with Early-Onset Parkinson's Disease

2013 ◽  
Vol 35 ◽  
pp. 181-185 ◽  
Author(s):  
Karla Cristina Vasconcelos Moura ◽  
Mário Campos Junior ◽  
Ana Lúcia Zuma de Rosso ◽  
Denise Hack Nicaretta ◽  
João Santos Pereira ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Early Onset ◽  
Neurodegenerative Disorder ◽  
Point Mutations ◽  
Pathogenic Mutation ◽  
Missense Variants ◽  
Pathogenic Variants ◽  
Gene Environment ◽  
Early Onset Parkinson’S Disease

Parkinson's disease is the second most frequent neurodegenerative disorder in the world, affecting 1-2% of individuals over the age of 65. The etiology of Parkinson's disease is complex, with the involvement of gene-environment interactions. Although it is considered a disease of late manifestation, early-onset forms of parkinsonism contribute to 5–10% of all cases. In the present study, we screened mutations in coding regions ofPARK2andPINK1genes in 136 unrelated Brazilian patients with early-onset Parkinson's disease through automatic sequencing. We identified six missense variants inPARK2gene: one known pathogenic mutation, two variants of uncertain role, and three nonpathogenic changes. No pathogenic mutation was identified inPINK1gene, only benign polymorphisms. All putative pathogenic variants found in this study were in heterozygous state. Our data show thatPARK2point mutations are more common in Brazilian early-onset Parkinson's disease patients (2.9%) thanPINK1missense variants (0%), corroborating other studies worldwide.

Novel Rare SORL1 Variants in Early-Onset Dementia

2021 ◽  
pp. 1-10
Author(s):  
Anita Korpioja ◽  
Johanna Krüger ◽  
Susanna Koivuluoma ◽  
Katri Pylkäs ◽  
Virpi Moilanen ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Early Onset ◽  
Rare Variants ◽  
Late Onset ◽  
Age At Onset ◽  
Early Onset Dementia ◽  
Missense Variants ◽  
Whole Exome ◽  
Increased Risk

Background: Rare variants of SORL1 have been associated with an increased risk of early-onset or late-onset Alzheimer’s disease (AD). However, a lot remains to be clarified about their significance in the pathogenesis of the disease. Objective: To evaluate the role of SORL1 variants among Finnish patients with early-onset AD (EOAD). Methods: The rare SORL1variants were screened in a cohort of 115 Finnish EOAD patients (mean age at onset 58.3 years, range 46–65 years) by using the whole-exome sequencing. Results: We found one novel nonsense variant (p.Gln290 *) and eight missense variants in SORL1. This is the first study reporting the SORL1 variants p.Lys80Arg, p.Ala789Val and p.Arg866Gln in EOAD patients. Furthermore, two of these three missense variants were overrepresented in EOAD patients compared to gnomAD non-neuro Finnish samples. Conclusion: This study strengthens the earlier findings, that the rare variants in SORL1 are associated with EOAD.

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