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在中国,Lamb-Shaffer综合征的临床病例系列和发病因子

Ruofei Lian¹, Gongao Wu¹, Falin Xu¹

¹Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, No. 7, Kangfu Front Street, Erqi District, Zhengzhou, Henan Province, 450052, China.

Orphanet journal of rare diseases

|July 29, 2024

概括

羔羊-沙弗综合征 (LAMSHF) 是一种罕见的神经发育障碍,由SOX5基因变异引起. 这项研究在中国患者中发现了新的SOX5突变,扩大了LAMSHF的已知遗传和临床谱.

科学领域:

遗传学遗传学是一个
神经发育障碍神经发育障碍
罕见疾病罕见疾病

背景情况:

兰布-沙弗综合征 (LAMSHF) 是一种罕见的神经发育障碍.
它的特点是全球发育迟缓,智力障碍和语言障碍.
LAMSHF是由SOX5基因中的异合体变异引起的.

研究的目的:

在中国患者中报告新型SOX5基因变异LAMSHF.
为亚洲人群中LAMSHF提供临床诊断示例.
分析LAMSHF患者的临床和遗传特征.

主要方法:

追溯收集来自中国LAMSHF患者的家庭信息.
全外体测序 (WES) 用于遗传诊断.
微基因拼接试验以验证变体的致病性.
文献综述,以进行全面的分析.

主要成果:

在SOX5基因中发现了三种新异构突变 (c.290delC,chr12:23686019_24048958del,c.1772-1C>A) 和一种遗传突变 (c.1411C>T).
临床表现包括一个患者的全球发育延迟和发作.
迷你基因试验证实,c.1772-1C>A变种影响了拼接,导致了截断的蛋白质.

结论:

智力障碍,语音延迟和面部形状障碍在LAMSHF中很常见.
发作和EEG异常很少发生 (22.16%).
这项研究代表了亚洲最大的LAMSHF队列,识别了新的SOX5突变并验证了拼接变体,扩大了表型和基因型的理解.

关键词:

这就是SOX5基因.全球发展的延迟.兰姆 - 沙弗综合征 (Lamb-Shaffer综合征) 是一种神经发育障碍是一种神经发育障碍.整个外基因组的测序.

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