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

被引：4

作者：

Yanagishita, Tomoe ^{[1
]}

Eto, Kaoru ^{[1
]}

Yamamoto-Shimojima, Keiko ^{[2
]}

Segawa, Osamu ^{[3
]}

Nagata, Miho ^{[4
]}

Ishihara, Yasuki ^{[4
]}

Miyashita, Yohei ^{[4
,5
]}

Asano, Yoshihiro ^{[4
]}

Sakata, Yasushi ^{[4
]}

Nagata, Satoru ^{[1
]}

Yamamoto, Toshiyuki ^{[6
]}

机构：

[1] Tokyo Womens Med Univ, Dept Pediat, Tokyo 1628666, Japan

[2] Tokyo Womens Med Univ, Dept Transfus Med & Cell Proc, Tokyo 1628666, Japan

[3] Tokyo Womens Med Univ, Dept Pediat Surg, Tokyo 1628666, Japan

[4] Osaka Univ, Grad Sch Med, Dept Cardiovasc Med, Suita, Osaka 5650871, Japan

[5] Osaka Univ, Grad Sch Med, Dept Legal Med, Suita, Osaka 5650871, Japan

[6] Tokyo Womens Med Univ, Inst Med Genet, Tokyo 1628666, Japan

来源：

HUMAN GENOME VARIATION | 2021年 / 8卷 / 01期

关键词：

D O I：

10.1038/s41439-021-00148-8

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页数：4

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