Case Report: A case of Poirier-Bienvenu neurodevelopmental syndrome manifesting primarily as eyelid myoclonia.

IF 2 3区医学 Q2 PEDIATRICS

Frontiers in Pediatrics Pub Date : 2025-09-03 eCollection Date: 2025-01-01 DOI:10.3389/fped.2025.1583346

Yuanyuan He, Qingqing Deng, Chen Chen, Zhanli Liu, Lingwei Weng

引用次数: 0

Abstract

Variants in the CSNK2B gene are known to cause Poirier-Bienvenu neurodevelopmental syndrome (POBINDS). Since its first report in 2017, nearly 100 cases have been documented. Epileptic seizures and intellectual disabilities are core symptoms of POBINDS. While the CSNK2B genotype and phenotype exhibit increasing diversity, the genotype-phenotype correlation remains unclear. In this study, we identified a novel CSNK2B heterozygous mutation NM_001320.7:c.268A > C (p.Thr90Pro) in a child with Jeavons syndrome, classified as a likely pathogenic under ACMG guidelines. Computational analyses predicted that the change of c.268A > C (p. Thr90Pro) might have an impact on the stability of the protein. This pathogenic mutation enriches the spectrum of CSNK2B gene mutations and suggests that CSNK2B may be a causative gene for Jeavons syndrome.

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病例报告：一例以眼睑肌阵挛为主要表现的普瓦里-比恩维努神经发育综合征。

已知CSNK2B基因的变异可引起Poirier-Bienvenu神经发育综合征。自2017年首次报告以来，已记录了近100起病例。癫痫发作和智力障碍是pobind的核心症状。虽然CSNK2B基因型和表型呈现出越来越多的多样性，但基因型与表型的相关性尚不清楚。在这项研究中，我们发现了一种新的CSNK2B杂合突变NM_001320.7:c。268A > C （p.s thr90pro）在患有Jeavons综合征的儿童中出现，根据ACMG指南被归类为可能的致病性。计算分析预测C . 268a > C （p. Thr90Pro）的变化可能对蛋白质的稳定性产生影响。这一致病突变丰富了CSNK2B基因突变谱，提示CSNK2B可能是Jeavons综合征的致病基因。

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

Frontiers in Pediatrics Medicine-Pediatrics, Perinatology and Child Health

CiteScore

3.60

自引率

7.70%

发文量

2132

审稿时长

14 weeks

期刊介绍： Frontiers in Pediatrics (Impact Factor 2.33) publishes rigorously peer-reviewed research broadly across the field, from basic to clinical research that meets ongoing challenges in pediatric patient care and child health. Field Chief Editors Arjan Te Pas at Leiden University and Michael L. Moritz at the Children''s Hospital of Pittsburgh are supported by an outstanding Editorial Board of international experts. This multidisciplinary open-access journal is at the forefront of disseminating and communicating scientific knowledge and impactful discoveries to researchers, academics, clinicians and the public worldwide. Frontiers in Pediatrics also features Research Topics, Frontiers special theme-focused issues managed by Guest Associate Editors, addressing important areas in pediatrics. In this fashion, Frontiers serves as an outlet to publish the broadest aspects of pediatrics in both basic and clinical research, including high-quality reviews, case reports, editorials and commentaries related to all aspects of pediatrics.