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Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder

2020; Springer Nature; Volume: 7; Issue: 1 Linguagem: Inglês

10.1038/s41439-020-0102-6

2054-345X

Takayuki Yokoi, Yumi Enomoto, Takuya Naruto, Kenji Kurosawa, Norimichi Higurashi,

Cancer-related gene regulation

Abstract 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 .