Diagnosis of Angelman Syndrome, With 66 Years of Delay, Using Hypothesis-Free DNA Methylation Profiling

IF 2.3 3区医学 Q2 GENETICS & HEREDITY

Clinical Genetics Pub Date : 2025-06-15 DOI:10.1111/cge.70000

Mathis Hildonen, Marco Ferilli, Ilona Krey, Oona Kohnen, Camilla Cappelletti, Konrad Platzer, Andrea Ciolfi, Rami Abou Jamra, Marco Tartaglia, Zeynep Tümer

引用次数: 0

Abstract

Hypothesis-free DNA methylation profiling in a 66-year-old male with unexplained neurodevelopmental disorder enabled the exclusion of ZNF142-related disease (left panel) and led to a retrospective diagnosis of Angelman syndrome, highlighting the diagnostic potential of single-patient epigenetic screening (right panel).

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使用无假设DNA甲基化分析，延迟66年诊断天使综合征。

对66岁男性不明原因神经发育障碍患者进行无假设DNA甲基化分析，排除了znf142相关疾病（左图），并导致Angelman综合征的回顾性诊断，突出了单例表观遗传筛查的诊断潜力（右图）。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Clinical Genetics 医学-遗传学

CiteScore

6.50

自引率

0.00%

发文量

175

审稿时长

3-8 weeks

期刊介绍： Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease