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

Yongping Lu; Pin Fee Chong; Ryutaro Kira; Toshiyuki Seto; Yumiko Ondo; Keiko Shimojima; Toshiyuki Yamamoto

doi:10.1055/s-0037-1603194

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

J Pediatr Genet. 2017 Dec;6(4):234-237. doi: 10.1055/s-0037-1603194. Epub 2017 May 16.

Authors

Yongping Lu¹, Pin Fee Chong², Ryutaro Kira², Toshiyuki Seto³, Yumiko Ondo¹, Keiko Shimojima¹, Toshiyuki Yamamoto¹

Affiliations

¹ Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
² Department of Pediatric Neurology, Fukuoka Children's Hospital, Fukuoka, Japan.
³ Department of Pediatrics, Osaka City University, Osaka, Japan.

Abstract

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.

Keywords: autistic features; behavioral abnormality; next generation sequencing.