病例报告:牙增生症和脊椎病作为EMC10相关神经发育障碍的额外特征
Gaëlle Forest-St-Onge1, Jean-François Soucy1, Marie-Ange Delrue1
1Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, Quebec, Canada.
Clinical genetics
|March 28, 2025
概括
这项研究确定了EMC10中的一种新的致病突变,扩大了EMC10相关神经发育障碍的已知症状. 它强调了重新分析外体数据以准确诊断的价值.
科学领域:
- 遗传学 是一个遗传学.
- 神经发育障碍 神经发育障碍
- 罕见疾病 罕见疾病
背景情况:
- 与EMC10相关的神经发育障碍 (NEDDFAS) 是一种自体逆性综合征.
- 具有全球发育迟缓,智力障碍,小头症,,脏异常和面部形的特征.
研究的目的:
- 在EMC10.0中报告一种新的同卵性致病突变.
- 扩大EMC10相关神经发育障碍的表型谱.
- 为了强调外体再分析的临床实用性.
主要方法:
- 对一个发育迟缓和智力障碍的个体进行了外再分析.
- 在EMC10 (NM_206538.4,c.343C>T,p.(Arg115Ter)) 中发现了一种同卵性致病突变.
主要成果:
- 鉴定出的突变扩大了EMC10相关神经发育障碍的已知临床特征.
- 患者出现了牙增生症和脊椎病,这些特征以前与EMC10突变无关.
结论:
- 体再分析对于诊断罕见的遗传疾病至关重要.
- 与EMC10相关的神经发育障碍的表型谱比以前理解的要广泛.
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