A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting

Tomoe Yanagishita; Kaoru Eto; Keiko Yamamoto-Shimojima; Osamu Segawa; Miho Nagata; Yasuki Ishihara; Yohei Miyashita; Yoshihiro Asano; Yasushi Sakata; Satoru Nagata; Toshiyuki Yamamoto

doi:10.1038/s41439-021-00148-8

A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting

Hum Genome Var. 2021 May 6;8(1):16. doi: 10.1038/s41439-021-00148-8.

Authors

Affiliations

¹ Department of Pediatrics, Tokyo Women's Medical University, Tokyo, 162-8666, Japan.
² Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, 162-8666, Japan.
³ Department of Pediatric Surgery, Tokyo Women's Medical University, Tokyo, 162-8666, Japan.
⁴ Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Suita, 565-0871, Japan.
⁵ Department of Legal Medicine, Osaka University Graduate School of Medicine, Suita, 565-0871, Japan.
⁶ Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, 162-8666, Japan. yamamoto.toshiyuki@twmu.ac.jp.

Abstract

A recurrent ZSWIM6 variant, NM_020928.2:c.2737C>T [p.Arg913*], was identified in a Japanese male patient with severe neurodevelopmental delay, epilepsy, distinctive facial features, microcephaly, growth deficiency, abnormal behavior, and frequent vomiting but without frontonasal or limb malformations. In this patient, distinctive facial features gradually became apparent with age, and severe vomiting caused by gastroesophageal reflux continued even after percutaneous endoscopic gastrostomy.