Kato Koji, Miya Fuyuki, Hori Ikumi, Ieda Daisuke, Ohashi Kei, Negishi Yutaka, Hattori Ayako, Okamoto Nobuhiko, Kato Mitsuhiro, Tsunoda Tatsuhiko, Yamasaki Mami, Kanemura Yonehiro, Kosaki Kenjiro, Saitoh Shinji
Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
J Hum Genet. 2019 Jul;64(7):701-702. doi: 10.1038/s10038-019-0610-8.
Since the publication of this article, it has been brought to our attention, that the identified mutation (NM_015277: c.2617 G > A; p.Glu873Lys) is identical with the mutation (NM_001144967: c.2677 G > A; p.Glu893Lys) reported by Broix et al (Nature Genetics 48, 1349-1358, 2016 https://doi.org/10.1038/ng.3676 ). Therefore the mutation is not novel but recurrent. Accordingly, the word "novel" should be deleted throughout the article including the title. Thus, the title should read "A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate."
自本文发表以来，我们注意到所鉴定的突变（NM_015277: c.2617 G > A; p.Glu873Lys）与Broix等人报道的突变（NM_001144967: c.2677 G > A; p.Glu893Lys）（《自然遗传学》48卷，1349 - 1358页，2016年，https://doi.org/10.1038/ng.3676 ）相同。因此，该突变并非新发现的，而是复发性的。相应地，应在整篇文章（包括标题）中删除“新发现的”一词。因此，标题应改为“在一名患有脑室周围结节性异位、多小脑回和腭裂的女孩中鉴定出的NEDD4L HECT结构域中的错义突变”。
