[塔顿-布朗-拉赫曼综合征:病例报告和与该综合征相关的DNMT3A变种以前没有报告]
Fernanda Martin M1, Catherine Díaz S2, Magdalena Mira O2
1Hospital Clínico Universidad de Chile, Santiago, Chile.
Andes pediatrica : revista Chilena de pediatria
|October 31, 2023
概括
塔顿·布朗·拉曼综合征 (TBRS) 是一种罕见的过度生长障碍,其特点在于智利出现了一例新病例. 这扩大了对TBRS遗传学和各种患者表现的理解.
科学领域:
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
- 罕见疾病 罕见疾病
背景情况:
- 塔顿·布朗·拉曼综合征 (TBRS) 是最近发现的一种与DNMT3A基因变异相关的过度生长综合征.
- 现型和诊断细节的TBRS仍在发展,从拉丁美洲人口有限的数据.
研究的目的:
- 为了记录一个智利患者的TBRS病例.
- 扩大已知的TBRS.的基因型和表型谱.
主要方法:
- 全外体测序 (WES) 用于诊断一个9岁的男孩患有TBRS.
- 临床评估包括对生长,发育,器官系统,神经成像 (EEG,MRI) 和骨年龄的评估.
主要成果:
- 一个新的DNMT3A变种 (c.2311C>T,p. (Arg771*)) 被确定.
- 该患者表现出典型的TBRS特征:新生儿过度生长,轻度智力障碍,自闭症谱系障碍,特征性面部形,以及骨晚年.
- 脑电图显示了形活动,尽管没有发作;大脑MRI正常.
结论:
- 这个案例扩大了TBRS.的基因型景观.
- 它有助于表征表型变异性,包括可能使差异诊断与其他过度生长综合征复杂化的特征,特别是在不同的种族群体中.
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