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Structural and sequence variants in patients with Silver‐Russell syndrome or similar features—Curation of a disease database

机译：银罗素综合征患者的结构和序列变体或疾病数据库的类似特征 - 愈合

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Abstract Silver‐Russell syndrome (SRS) is a clinically and molecularly heterogeneous disorder involving prenatal and postnatal growth retardation, and the term SRS‐like is broadly used to describe individuals with clinical features resembling SRS. The main molecular subgroups are loss of methylation of the distal imprinting control region ( H19/IGF2 :IG‐DMR) on 11p15.5 (50%) and maternal uniparental disomy of chromosome 7 (5%–10%). Through a comprehensive literature search, we identified 91 patients/families with various structural and small sequence variants, which were suggested as additional molecular defects leading to SRS/SRS‐like phenotypes. However, the molecular and phenotypic data of these patients were not standardized and therefore not comparable, rendering difficulties in phenotype–genotype comparisons. To overcome this challenge, we curated a disease database including (epi)genetic phenotypic data of these patients. The clinical features are scored according to the Netchine‐Harbison clinical scoring system (NH‐CSS), which has recently been accepted as standard by consensus. The structural and sequence variations are reviewed and where necessary redescribed according to recent recommendations. Our study provides a framework for both research and diagnostic purposes through facilitating a standardized comparison of (epi)genotypes with phenotypes of patients with structural/sequence variants.
机译：摘要银罗素综合征（SRS）是一种临床和分子异质疾病，涉及产前和产前生长迟缓，术语样品术语广泛地用于描述具有类似SRS的临床特征的个体。主要的分子亚组是在11p15.5（50％）和染色体染色体的孕产妇发起症体和母体发单痂的远端压印对照区域（H19 / IGF2：IG-DMR）的甲基化损失。通过全面的文献搜索，我们确定了91名具有各种结构和小序列变体的患者/家庭，这表明额外的分子缺陷导致SRS / SRS样表型。然而，这些患者的分子和表型数据没有标准化，因此不可比较，在表型基因型比较中的困难。为了克服这一挑战，我们策划了疾病数据库，包括这些患者的（EPI）遗传表型数据。根据Netchine-Harbison临床评分系统（NH-CSS）评分临床特征，最近通过共识被视为标准。根据最近的建议，审查了结构和序列变异，必要的必要时重新分析。我们的研究通过促进（EPI）基因型与结构/序列变体患者的表型进行了标准化的比较，为研究和诊断目的提供了研究和诊断目的的框架。

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