宪法副本号码变体解释和报告的法文翻译网络指南。

IF 2.3 3区 医学 Q2 GENETICS & HEREDITY
Céline Pebrel-Richard, Paul Kuentz, Anne-Claude Tabet, Jean-Michel Dupont, Chantal Missirian, Serge Romana, Detlef Trost, Caroline Rooryck, Valérie Malan, Matthieu Egloff
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引用次数: 0

摘要

在过去的15年中,人类基因组分析的分子方法有了显著的发展,成为常规遗传诊断的组成部分。在各种基因组改变中,拷贝数变异(CNVs)作为良性和致病性变异的来源尤为重要。准确评估这些变异的临床意义至关重要,特别是对于罕见的、非复发性的CNVs和与神经发育障碍(ndd)相关的易感位点。为了应对这些挑战,法国AchroPuce CNV解释工作组提出了一种名为“PIEV”的新分类,指的是与ndd相关的CNV,其特征是不完全外显和表达性可变。这一分类补充了现有的五层ACMG分类系统,支持遗传专业人员通过标准化的法国国家指南协调实践,从而提高遗传咨询和临床解释的准确性。明确区分致病性变异和不完全外显性变异是至关重要的,独立于临床背景对这些CNVs进行一致的分类是至关重要的。临床意义评估需要生物学家和多学科临床团队之间的合作,特别是在产前诊断方面。工作组每年对外显率降低的复发性神经发育性CNVs进行审查,并通过定制的解释工具提供共识建议,以提高CNVs报告的国家一致性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number Variants.

Over the past 15 years, molecular methods for human genome analysis have evolved significantly, becoming integral to routine genetic diagnostics. Among various genomic alterations, copy-number variations (CNVs) are particularly important as sources of both benign and pathogenic variants. Accurate assessment of these variants' clinical implications is critical, especially for rare, non-recurrent CNVs and for susceptibility loci linked to neurodevelopmental disorders (NDDs). To address these challenges, the French AchroPuce CNV Interpretation Working Group proposes a novel classification termed "PIEV," referring to CNVs associated with NDDs characterized by incomplete penetrance and variable expressivity. This category complements the existing five-tier ACMG classification system, supporting genetic professionals in harmonizing practice through standardized French national guidelines, thereby enhancing genetic counseling and clinical interpretation precision. Distinguishing clearly pathogenic variants from those with incomplete penetrance is crucial, and the consistent classification of these CNVs independently of the clinical context is essential. Clinical significance assessments should entail collaboration between biologists and multidisciplinary clinical teams, especially in prenatal diagnostics. The working group maintains an annually reviewed curated list of recurrent neurodevelopmental CNVs with reduced penetrance and provides consensus recommendations with a customized interpretation tool to enhance national consistency in CNVs reporting.

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来源期刊
Clinical Genetics
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
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