Movement disorders clinical practice · 2023
Detection of ATXN2 Expansions in an Exome Dataset: An Underdiagnosed Cause of Parkinsonism.
СтатьяНазвание и аннотация: Перевод в очереди
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Casse Fanny, Courtin Thomas, Tesson Christelle, Ferrien Mélanie, Noël Sandrine, Fauret-Amsellem Anne-Laure, Gareau Thomas, Guegan Justine, Anheim Mathieu, Mariani Louise-Laure, Le Forestier Nadine, Tranchant Christine, Corvol Jean-Christophe, Lesage Suzanne, Brice Alexis, French Parkinson's disease genetics study group (PDG)
Аннотация
BACKGROUND: CAG-repeat expansions in Ataxin 2 (ATXN2) are known to cause spinocerebellar ataxia type 2 (SCA2), but CAA interrupted expansions may also result in autosomal dominant Parkinson's disease (AD PD). However, because of technical limitations, such expansions are not explored in whole exome sequencing (WES) data.
OBJECTIVES: To identify ATXN2 expansions using WES data from PD cases.
METHODS: We explored WES data from a cohort of 477 index cases with PD using ExpansionHunter (Illumina DRAGEN Bio-IT Platform, San Diego, CA). Putative expansions were confirmed by combining polymerase chain reaction and fragment length analysis followed by sub-cloning and sequencing methods.
RESULTS: Using ExpansionHunter, we identified three patients from two families with AD PD carrying either ATXN2 22/39 or 22/37 repeats, both interrupted by four CAA repeats.
CONCLUSION: These findings demonstrate the usefulness of WES to detect pathogenic CAG repeat expansions, which were found in 1.7% of AD PD in the ATXN2 gene in our exome dataset.
OBJECTIVES: To identify ATXN2 expansions using WES data from PD cases.
METHODS: We explored WES data from a cohort of 477 index cases with PD using ExpansionHunter (Illumina DRAGEN Bio-IT Platform, San Diego, CA). Putative expansions were confirmed by combining polymerase chain reaction and fragment length analysis followed by sub-cloning and sequencing methods.
RESULTS: Using ExpansionHunter, we identified three patients from two families with AD PD carrying either ATXN2 22/39 or 22/37 repeats, both interrupted by four CAA repeats.
CONCLUSION: These findings demonstrate the usefulness of WES to detect pathogenic CAG repeat expansions, which were found in 1.7% of AD PD in the ATXN2 gene in our exome dataset.