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Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene, OFD1.
Xu, Yifei; Tsurinaga, Yuki; Matsumoto, Tsubasa; Muta, Ryuji; Yano, Taichi; Sakaida, Hiroshi; Masuda, Sawako; Ueda, Koki; Feng, Guofei; Gotoh, Shimpei; Ogawa, Satoru; Ikejiri, Makoto; Nakatani, Kaname; Nagao, Mizuho; Tanabe, Masaki; Takeuchi, Kazuhiko.
Afiliação
  • Xu Y; Department of Otorhinolaryngology-Head and Neck Surgery Mie University Graduate School of Medicine, Tsu, Japan.
  • Tsurinaga Y; Department of Pediatrics Osaka Habikino Medical Center, Osaka, Japan.
  • Matsumoto T; Department of Pediatric Infection and Immunology Fukuoka Children's Hospital, Fukuoka, Japan.
  • Muta R; Department of Allergy and Respiratory Medicine Fukuoka Children's Hospital, Fukuoka, Japan.
  • Yano T; Faculty of Medicine Mie University, Tsu, Japan.
  • Sakaida H; Department of Otorhinolaryngology-Head and Neck Surgery Mie University Graduate School of Medicine, Tsu, Japan.
  • Masuda S; Department of Otorhinolaryngology National Hospital Organization Mie National Hospital, Tsu, Japan.
  • Ueda K; Department of Otorhinolaryngology-Head and Neck Surgery Mie University Graduate School of Medicine, Tsu, Japan.
  • Feng G; Department of Otorhinolaryngology-Head and Neck Surgery Mie University Graduate School of Medicine, Tsu, Japan.
  • Gotoh S; Center for iPS Cell Research and Application Kyoto University, Kyoto, Japan.
  • Ogawa S; Electron Microscopy Research Center Mie University Graduate School of Medicine, Tsu, Japan.
  • Ikejiri M; Department of Clinical Laboratory Mie University Hospital, Tsu, Japan.
  • Nakatani K; Department of Medicine Iga City General Hospital, Iga, Japan.
  • Nagao M; Institute for Clinical Research National Hospital Organization Mie National Hospital, Tsu, Japan.
  • Tanabe M; Department of Clinical Laboratory Mie University Hospital, Tsu, Japan.
  • Takeuchi K; Department of Otorhinolaryngology-Head and Neck Surgery Mie University Graduate School of Medicine, Tsu, Japan.
Case Rep Genet ; 2024: 1595717, 2024.
Article em En | MEDLINE | ID: mdl-39156004
ABSTRACT
Primary ciliary dyskinesia (PCD) is a hereditary disease caused by genes related to motile cilia. We report two male pediatric cases of PCD caused by hemizygous pathogenic variants in the OFD1 centriole and centriolar satellite protein (OFD1) gene. The variants were NM_003611.3 c.[2789_2793delTAAAA] (p.[Ile930LysfsTer8]) in Case 1 and c.[2632_2635delGAAG] (p.[Glu878LysfsTer9]) in Case 2. Both cases had characteristic recurrent respiratory infections. Neither case had symptoms of oral-facial-digital syndrome type I. We identified a variant (c.2632_2635delGAAG) that has not been previously reported in any case of OFD1-PCD.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article