Movement disorders clinical practice · 2025
Molecular Analysis through Whole Exome Sequencing in Ataxia Telangiectasia Patients: Beyond ATM.
СтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Novis Luiz Eduardo, Gouvea Luane Abdalla, Silva Thiago Yoshinaga Tonholo, Raslan Ivana Rocha, Lago Carolina Sanchez Aranda, Barreto Talita Lemos Neves, de Souza Luma Cardoso Gurgel, Barsottini Orlando Graziani Povoas, Pedroso José Luiz
Аннотация
BACKGROUND: Ataxia-telangiectasia (AT) is a rare neurodegenerative disorder caused by biallelic ATM gene mutations. While most patients exhibit classical features-progressive ataxia, oculocutaneous telangiectasia, and oculomotor apraxia-atypical presentations and overlapping phenotypes with AT-like disorders pose diagnostic challenges.
OBJECTIVES: To describe clinical and genetic findings in patients with suspected AT and assess the diagnostic utility of whole-exome sequencing (WES).
METHODS: We analyzed 20 patients with clinical features suggestive of AT who underwent genomic evaluation.
RESULTS: Pathogenic or likely pathogenic ATM variants were found in 14 /19 patients with available data. Three had mutations in MRE11A or PCNA, consistent with ATLD1 and ATLD2, respectively. Two patients with classic phenotypes lacked conclusive genetic findings.
CONCLUSIONS: Our findings highlight the phenotypic and genetic heterogeneity of AT and limitations of WES. We propose the integration of whole-genome sequencing (WGS) and RNA sequencing as complementary tools to improve diagnostic yield in AT and AT-like syndromes.
OBJECTIVES: To describe clinical and genetic findings in patients with suspected AT and assess the diagnostic utility of whole-exome sequencing (WES).
METHODS: We analyzed 20 patients with clinical features suggestive of AT who underwent genomic evaluation.
RESULTS: Pathogenic or likely pathogenic ATM variants were found in 14 /19 patients with available data. Three had mutations in MRE11A or PCNA, consistent with ATLD1 and ATLD2, respectively. Two patients with classic phenotypes lacked conclusive genetic findings.
CONCLUSIONS: Our findings highlight the phenotypic and genetic heterogeneity of AT and limitations of WES. We propose the integration of whole-genome sequencing (WGS) and RNA sequencing as complementary tools to improve diagnostic yield in AT and AT-like syndromes.