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

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...

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Main Authors:	Tomoe Yanagishita, Kaoru Eto, Keiko Yamamoto-Shimojima, Osamu Segawa, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Yasushi Sakata, Satoru Nagata, Toshiyuki Yamamoto
Format:	Article
Language:	English
Published:	Nature Publishing Group 2021-05-01
Series:	Human Genome Variation
Online Access:	https://doi.org/10.1038/s41439-021-00148-8

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spelling	doaj-600e11a0285f4005985f092f5858fa452021-05-09T11:14:45ZengNature Publishing GroupHuman Genome Variation2054-345X2021-05-01811410.1038/s41439-021-00148-8A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomitingTomoe Yanagishita0Kaoru Eto1Keiko Yamamoto-Shimojima2Osamu Segawa3Miho Nagata4Yasuki Ishihara5Yohei Miyashita6Yoshihiro Asano7Yasushi Sakata8Satoru Nagata9Toshiyuki Yamamoto10Department of Pediatrics, Tokyo Women’s Medical UniversityDepartment of Pediatrics, Tokyo Women’s Medical UniversityDepartment of Transfusion Medicine and Cell Processing, Tokyo Women’s Medical UniversityDepartment of Pediatric Surgery, Tokyo Women’s Medical UniversityDepartment of Cardiovascular Medicine, Osaka University Graduate School of MedicineDepartment of Cardiovascular Medicine, Osaka University Graduate School of MedicineDepartment of Cardiovascular Medicine, Osaka University Graduate School of MedicineDepartment of Cardiovascular Medicine, Osaka University Graduate School of MedicineDepartment of Cardiovascular Medicine, Osaka University Graduate School of MedicineDepartment of Pediatrics, Tokyo Women’s Medical UniversityInstitute of Medical Genetics, Tokyo Women’s Medical UniversityAbstract 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.https://doi.org/10.1038/s41439-021-00148-8
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Tomoe Yanagishita Kaoru Eto Keiko Yamamoto-Shimojima Osamu Segawa Miho Nagata Yasuki Ishihara Yohei Miyashita Yoshihiro Asano Yasushi Sakata Satoru Nagata Toshiyuki Yamamoto
spellingShingle	Tomoe Yanagishita Kaoru Eto Keiko Yamamoto-Shimojima Osamu Segawa Miho Nagata Yasuki Ishihara Yohei Miyashita Yoshihiro Asano Yasushi Sakata Satoru Nagata Toshiyuki Yamamoto A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting Human Genome Variation
author_facet	Tomoe Yanagishita Kaoru Eto Keiko Yamamoto-Shimojima Osamu Segawa Miho Nagata Yasuki Ishihara Yohei Miyashita Yoshihiro Asano Yasushi Sakata Satoru Nagata Toshiyuki Yamamoto
author_sort	Tomoe Yanagishita
title	A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting
title_short	A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting
title_full	A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting
title_fullStr	A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting
title_full_unstemmed	A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting
title_sort	recurrent de novo zswim6 variant in a japanese patient with severe neurodevelopmental delay and frequent vomiting
publisher	Nature Publishing Group
series	Human Genome Variation
issn	2054-345X
publishDate	2021-05-01
description	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.
url	https://doi.org/10.1038/s41439-021-00148-8
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A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting

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