Tatton-Brown-Rahman syndrome is a congenital anomaly syndrome that manifests with overgrowth, macrocephaly, and characteristic facial features. This autosomal dominant disease is caused by a germline mutation in DNMT3A. Some patients with this syndrome develop mild to severe intellectual disability, which is sometimes accompanied by autism spectrum disorder or other developmental disorders. We report a Japanese patient with severe intellectual disability and autism spectrum disorder with a de novo mutation in the active domain of DNMT3A.

中文翻译：

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具有新型 DNMT3A 突变的 Tatton-Brown-Rahman 综合征表现出严重的智力障碍和自闭症谱系障碍。


塔顿-布朗-拉曼综合征是一种先天性异常综合征，表现为过度生长、大头畸形和特征性面部特征。这种常染色体显性遗传疾病是由 DNMT3A 种系突变引起的。一些患有这种综合征的患者会出现轻度至重度智力障碍，有时还伴有自闭症谱系障碍或其他发育障碍。我们报告了一名患有严重智力障碍和自闭症谱系障碍的日本患者，其 DNMT3A 活性结构域存在新生突变。