A novel mutation of NFIX causes Sotos-like syndrome (Malan syndrome) complicated with thoracic aortic aneurysm and dissection

Tsukasa Oshima; Hironori Hara; Norifumi Takeda; Eriko Hasumi; Yukiko Kuroda; Go Taniguchi; Ryo Inuzuka; Kan Nawata; Hiroyuki Morita; Issei Komuro

doi:10.1038/hgv.2017.22

A novel mutation of NFIX causes Sotos-like syndrome (Malan syndrome) complicated with thoracic aortic aneurysm and dissection

Hum Genome Var. 2017 Jun 1:4:17022. doi: 10.1038/hgv.2017.22. eCollection 2017.

Authors

Affiliations

¹ Department of Cardiovascular Medicine, The University of Tokyo Hospital, Bunkyo-ku, Tokyo, Japan.
² Department of Pediatrics, The University of Tokyo Hospital, Bunkyo-ku, Tokyo, Japan.
³ Department of Neuropsychiatry, The University of Tokyo Hospital, Bunkyo-ku, Tokyo, Japan.
⁴ Department of Cardiovascular Surgery, The University of Tokyo Hospital, Bunkyo-ku, Tokyo, Japan.

Abstract

Malan syndrome has recently been characterized to present Sotos-like phenotypes, such as intellectual disability and macrocephaly, with mutations in the NFIX gene. Herein, we report a 38-year-old patient with a novel single adenine insertion mutation in exon 2 of the NFIX gene (c.290_291insA). He developed early-onset thoracic aortic aneurysm and dissection, which was a rare complication but deserves particular attention in relatively long-lived patients with Sotos-like phenotypes.