METHODS: A comprehensive literature search was conducted resulting in identification of more than 100 articles which formed the basis of discussions by two working groups focusing on clinical diagnosis (n = 12 members) and molecular testing (n = 19 members). Following eight months of preparations and regular online discussions, the experts from 11 countries compiled the preliminary documentation and determined the questions to be addressed during a face-to-face meeting which was held with the attendance of the experts together with four representatives of patient advocacy organisations.
RESULTS: In light of available evidence and expert consensus, we formulated 16 propositions and 8 recommendations as interim guidance for the clinical and molecular diagnosis of MLID.
CONCLUSIONS: MLID is a molecular designation, and for patients with MLID and atypical phenotypes, we propose the alternative term multi-locus imprinting syndrome. Due to the intrinsic variability of MLID, the guidelines underscore the importance of involving experts from various fields to ensure a confident approach to diagnosis, counselling, and care. The authors advocate for global, collaborative efforts in both basic and translational research to tackle numerous crucial questions that currently lack answers, and suggest reconvening within the next 3-5 years to evaluate the research advancements and update this guidance as needed.
方法:进行了全面的文献检索,鉴定了100多篇文章,这些文章构成了两个工作组的讨论基础,重点是临床诊断(n=12名成员)和分子检测(n=19名成员)。经过八个月的准备和定期的在线讨论,来自11个国家的专家汇编了初步文件,并确定了在面对面会议上需要解决的问题,专家们和四名患者倡导组织的代表出席了会议。
结果:根据现有证据和专家共识,我们制定了16项建议和8项建议,作为MLID临床和分子诊断的中期指导.
结论:MLID是一种分子名称,对于MLID和非典型表型的患者,我们提出了替代术语多位点印记综合征。由于MLID的内在可变性,该指南强调了让各个领域的专家参与以确保自信的诊断方法的重要性,咨询,和关心。作者倡导全球,在基础研究和转化研究方面的合作努力,以解决目前缺乏答案的许多关键问题,并建议在未来3-5年内重新召开会议,以评估研究进展,并根据需要更新本指南。