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Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder.

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Title: Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder.
Authors: Komatsu K; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan., Sugie A; Brain Research Institute, Niigata University, Niigata, Japan. sugie@kit.ac.jp., Nitta Y; Brain Research Institute, Niigata University, Niigata, Japan., Osaka J; Brain Research Institute, Niigata University, Niigata, Japan., Mansoor Hussain UH; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan., Kubota M; Department of General Pediatrics and Interdisciplinary Medicine, National Center for Child Health and Development, Tokyo, Japan., Shimozawa N; Division of Genomics Research, Life Science Research Center, Gifu University, Gifu, Japan., Carter MT; Department of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada., J G Zwijnenburg P; Department of Clinical Genetics, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands., Waisfisz Q; Department of Clinical Genetics, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands., Boschann F; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité Clinician Scientist Program, Berlin, Germany., Horn D; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Nakashima M; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan. sb8901@cc.saga-u.ac.jp., Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Jun 24. Date of Electronic Publication: 2026 Jun 24.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder.
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  Data: <searchLink fieldCode="AU" term="%22Komatsu+K%22">Komatsu K</searchLink>; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.<br /><searchLink fieldCode="AU" term="%22Sugie+A%22">Sugie A</searchLink>; Brain Research Institute, Niigata University, Niigata, Japan. sugie@kit.ac.jp.<br /><searchLink fieldCode="AU" term="%22Nitta+Y%22">Nitta Y</searchLink>; Brain Research Institute, Niigata University, Niigata, Japan.<br /><searchLink fieldCode="AU" term="%22Osaka+J%22">Osaka J</searchLink>; Brain Research Institute, Niigata University, Niigata, Japan.<br /><searchLink fieldCode="AU" term="%22Mansoor+Hussain+UH%22">Mansoor Hussain UH</searchLink>; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.<br /><searchLink fieldCode="AU" term="%22Kubota+M%22">Kubota M</searchLink>; Department of General Pediatrics and Interdisciplinary Medicine, National Center for Child Health and Development, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Shimozawa+N%22">Shimozawa N</searchLink>; Division of Genomics Research, Life Science Research Center, Gifu University, Gifu, Japan.<br /><searchLink fieldCode="AU" term="%22Carter+MT%22">Carter MT</searchLink>; Department of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.<br /><searchLink fieldCode="AU" term="%22J+G+Zwijnenburg+P%22">J G Zwijnenburg P</searchLink>; Department of Clinical Genetics, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Waisfisz+Q%22">Waisfisz Q</searchLink>; Department of Clinical Genetics, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Boschann+F%22">Boschann F</searchLink>; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité Clinician Scientist Program, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Horn+D%22">Horn D</searchLink>; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Nakashima+M%22">Nakashima M</searchLink>; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan. sb8901@cc.saga-u.ac.jp.<br /><searchLink fieldCode="AU" term="%22Saitsu+H%22">Saitsu H</searchLink>; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
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  Data: <searchLink fieldCode="JN" term="%229302235%22">European journal of human genetics : EJHG</searchLink> [Eur J Hum Genet] 2026 Jun 24. <i>Date of Electronic Publication: </i>2026 Jun 24.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Publishing+Group%22">Nature Publishing Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9302235 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1476-5438 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210184813%22">10184813 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Hum Genet <i>Subsets: </i>MEDLINE
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              Text: 2026 Jun 24
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