Clinical features of PPP2 syndrome type R5D (Jordan's syndrome) to support standardization of care.

IF 1.8 Q3 MEDICINE, RESEARCH & EXPERIMENTAL

Cold Spring Harbor Molecular Case Studies Pub Date : 2023-06-01 DOI:10.1101/mcs.a006285

Alexis D Levine, Wendy K Chung

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Abstract

PPP2 syndrome type R5D, or Jordan's syndrome, is a neurodevelopmental disorder caused by pathogenic missense variants in PPP2R5D, a β-subunit of the Protein Phosphatase 2A (PP2A). The condition is characterized by global developmental delays, seizures, macrocephaly, ophthalmological abnormalities, hypotonia, attention disorder, social and sensory challenges often associated with autism, disordered sleep, and feeding difficulties. Among affected individuals, there is a broad spectrum of severity, and each person only has a subset of all associated symptoms. Some, but not all, of the clinical variability is due to differences in the PPP2R5D genotype. These suggested clinical care guidelines for the evaluation and treatment of individuals with PPP2 syndrome type R5D are based on data from 100 individuals reported in the literature and from an ongoing natural history study. As more data are available, particularly for adults and regarding treatment response, we anticipate that revisions to these guidelines will be made.

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PPP2综合征R5D型(约旦综合征)临床特征支持规范化护理。

PPP2综合征型R5D，或称乔丹综合征，是一种由PPP2R5D致病错义变异引起的神经发育障碍，PPP2R5D是蛋白磷酸酶2A (PP2A)的β-亚基。这种疾病的特点是整体发育迟缓、癫痫发作、大头畸形、眼科异常、张力低下、注意力障碍、社交和感觉障碍，通常与自闭症、睡眠障碍和进食困难有关。在受影响的个体中，有广泛的严重程度，每个人只有所有相关症状的一个子集。一些，但不是全部，临床变异性是由于PPP2R5D基因型的差异。这些推荐的临床护理指南用于评估和治疗PPP2综合征型R5D患者，是基于文献中报道的100名患者的数据和一项正在进行的自然史研究。随着可获得的数据越来越多，特别是关于成人和治疗反应的数据，我们预计将对这些指南进行修订。

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

Cold Spring Harbor Molecular Case Studies MEDICINE, RESEARCH & EXPERIMENTAL-

CiteScore

3.20

自引率

0.00%

发文量

期刊介绍： Cold Spring Harbor Molecular Case Studies is an open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present genomic and molecular analyses of individuals or cohorts alongside their clinical presentations and phenotypic information. The journal''s purpose is to rapidly share insights into disease development and treatment gained by application of genomics, proteomics, metabolomics, biomarker analysis, and other approaches. The journal covers the fields of cancer, complex diseases, monogenic disorders, neurological conditions, orphan diseases, infectious disease, gene therapy, and pharmacogenomics. It has a rapid peer-review process that is based on technical evaluation of the analyses performed, not the novelty of findings, and offers a swift, clear path to publication. The journal publishes: Research Reports presenting detailed case studies of individuals and small cohorts, Research Articles describing more extensive work using larger cohorts and/or functional analyses, Rapid Communications presenting the discovery of a novel variant and/or novel phenotype associated with a known disease gene, Rapid Cancer Communications presenting the discovery of a novel variant or combination of variants in a cancer type, Variant Discrepancy Resolution describing efforts to resolve differences or update variant interpretations in ClinVar through case-level data sharing, Follow-up Reports linked to previous observations, Plus Review Articles, Editorials, and Position Statements on best practices for research in precision medicine.