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.

Details

Title
A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting
Author
Yanagishita Tomoe 1 ; Eto Kaoru 1 ; Yamamoto-Shimojima Keiko 2 ; Segawa Osamu 3 ; Nagata Miho 4 ; Ishihara Yasuki 4   VIAFID ORCID Logo  ; Miyashita Yohei 5 ; Asano Yoshihiro 4 ; Sakata Yasushi 4 ; Nagata Satoru 1 ; Yamamoto Toshiyuki 6   VIAFID ORCID Logo 

1  Tokyo Women’s Medical University, Department of Pediatrics, Tokyo, Japan (GRID:grid.410818.4) (ISNI:0000 0001 0720 6587) 
2  Tokyo Women’s Medical University, Department of Transfusion Medicine and Cell Processing, Tokyo, Japan (GRID:grid.410818.4) (ISNI:0000 0001 0720 6587) 
3  Tokyo Women’s Medical University, Department of Pediatric Surgery, Tokyo, Japan (GRID:grid.410818.4) (ISNI:0000 0001 0720 6587) 
4  Osaka University Graduate School of Medicine, Department of Cardiovascular Medicine, Suita, Japan (GRID:grid.136593.b) (ISNI:0000 0004 0373 3971) 
5  Osaka University Graduate School of Medicine, Department of Cardiovascular Medicine, Suita, Japan (GRID:grid.136593.b) (ISNI:0000 0004 0373 3971); Osaka University Graduate School of Medicine, Department of Legal Medicine, Suita, Japan (GRID:grid.136593.b) (ISNI:0000 0004 0373 3971) 
6  Tokyo Women’s Medical University, Institute of Medical Genetics, Tokyo, Japan (GRID:grid.410818.4) (ISNI:0000 0001 0720 6587) 
Publication year
2021
Publication date
2021
Publisher
Springer Nature B.V.
e-ISSN
2054345X
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.1038/s41439-021-00148-8
ProQuest document ID
2522497612
Copyright
© The Author(s) 2021. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.