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Clinical and molecular expansion of SSR4-CDG: an adult patient and pathogenic interpretation of an in-frame variant.

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Title: Clinical and molecular expansion of SSR4-CDG: an adult patient and pathogenic interpretation of an in-frame variant.
Authors: Yoshimura A; Departments of Pediatrics, Seirei-Mikatahara General Hospital, Shizuoka, Japan. a-fujitani@sis.seirei.or.jp., Azuma Y; Department of Pediatrics, Aichi Medical University, Aichi, Japan., Hamada K; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Nakama M; Department of Life Science, Faculty of Science and Engineering, Kindai University, Osaka, Japan., Sakai Y; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Kajiwara K; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Yamashita H; Department of Child Psychiatry, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Baba S; Department of Child Neurology, Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital, Shizuoka, Japan., Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan., Ogata K; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Innovation & Research Support Center, Graduate School, International University of Health and Welfare, Tokyo, Japan., Wada Y; Department of Obstetric Medicine, Osaka Women's and Children's Hospital (OWCH), Osaka, Japan.; Department of Molecular Medicine, Osaka Women's and Children's Hospital (OWCH), Osaka, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan.; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.; Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan., Okamoto N; Department of Medical Genetics, Osaka, Women's and Children's Hospital (OWCH), Osaka, Japan.
Source: Journal of human genetics [J Hum Genet] 2026 Jul 16. Date of Electronic Publication: 2026 Jul 16.
Publication Type: Journal Article
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Clinical and molecular expansion of SSR4-CDG: an adult patient and pathogenic interpretation of an in-frame variant.
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  Data: <searchLink fieldCode="AU" term="%22Yoshimura+A%22">Yoshimura A</searchLink>; Departments of Pediatrics, Seirei-Mikatahara General Hospital, Shizuoka, Japan. a-fujitani@sis.seirei.or.jp.<br /><searchLink fieldCode="AU" term="%22Azuma+Y%22">Azuma Y</searchLink>; Department of Pediatrics, Aichi Medical University, Aichi, Japan.<br /><searchLink fieldCode="AU" term="%22Hamada+K%22">Hamada K</searchLink>; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Nakama+M%22">Nakama M</searchLink>; Department of Life Science, Faculty of Science and Engineering, Kindai University, Osaka, Japan.<br /><searchLink fieldCode="AU" term="%22Sakai+Y%22">Sakai Y</searchLink>; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.<br /><searchLink fieldCode="AU" term="%22Kajiwara+K%22">Kajiwara K</searchLink>; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.<br /><searchLink fieldCode="AU" term="%22Yamashita+H%22">Yamashita H</searchLink>; Department of Child Psychiatry, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.<br /><searchLink fieldCode="AU" term="%22Baba+S%22">Baba S</searchLink>; Department of Child Neurology, Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital, Shizuoka, Japan.<br /><searchLink fieldCode="AU" term="%22Koshimizu+E%22">Koshimizu E</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Miyatake+S%22">Miyatake S</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Ogata+K%22">Ogata K</searchLink>; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Innovation & Research Support Center, Graduate School, International University of Health and Welfare, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Wada+Y%22">Wada Y</searchLink>; Department of Obstetric Medicine, Osaka Women's and Children's Hospital (OWCH), Osaka, Japan.; Department of Molecular Medicine, Osaka Women's and Children's Hospital (OWCH), Osaka, Japan.<br /><searchLink fieldCode="AU" term="%22Matsumoto+N%22">Matsumoto N</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan.; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.; Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Okamoto+N%22">Okamoto N</searchLink>; Department of Medical Genetics, Osaka, Women's and Children's Hospital (OWCH), Osaka, Japan.
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              Text: 2026 Jul 16
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