J Pediatr Genet 2017; 06(04): 234-237
DOI: 10.1055/s-0037-1603194
Original Article
Georg Thieme Verlag KG Stuttgart · New York

Mutations in NSD1 and NFIX in Three Patients with Clinical Features of Sotos Syndrome and Malan Syndrome

Yongping Lu1, Pin Fee Chong2, Ryutaro Kira2, Toshiyuki Seto3, Yumiko Ondo1, Keiko Shimojima1, Toshiyuki Yamamoto1
  • 1Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan
  • 2Department of Pediatric Neurology, Fukuoka Children's Hospital, Fukuoka, Japan
  • 3Department of Pediatrics, Osaka City University, Osaka, Japan
Further Information

Publication History

10 March 2017

12 April 2017

Publication Date:
16 May 2017 (eFirst)


Mutations in nuclear receptor SET domain-containing protein 1 gene (NSD1) are related to Sotos syndrome, which is characterized by overgrowth, macrocephaly, distinctive features, and neurodevelopmental disabilities. On the other hand, mutations in the nuclear factor I/X gene (NFIX) can lead to Malan syndrome, also known as Sotos-like syndrome, or to the Marshall–Smith syndrome. In this study, using next generation sequencing (NGS), we identified de novo mutations in NSD1 and NFIX in three patients with developmental disabilities associated with overgrowth or macrocephaly. Overall, we confirmed that clinical entities of congenital malformation syndromes can be expanded by molecular diagnoses via NGS.


This work was supported by the Practical Research Project for Rare/Intractable Diseases from Japan Agency for Medical Research and development (AMED), a grant-in-aid for Scientific Research from Health Labor Sciences Research Grants from the Ministry of Health, Labor, and Welfare, Japan, and JSPS KAKENHI (Grant Number, 15K09631). Also, this work was supported in part by Japan-China Sasakawa Medical Fellowship.