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Identification of novel LFNG mutations in spondylocostal dysostosis.
Otomo, Nao; Mizumoto, Shuji; Lu, Hsing-Fang; Takeda, Kazuki; Campos-Xavier, Belinda; Mittaz-Crettol, Lauréane; Guo, Long; Takikawa, Kazuharu; Nakamura, Masaya; Yamada, Shuhei; Matsumoto, Morio; Watanabe, Kota; Ikegawa, Shiro.
Affiliation
  • Otomo N; Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences RIKEN, Tokyo, Japan.
  • Mizumoto S; Department of Orthopaedic Surgery, Keio University School of Medicine, Tokyo, Japan.
  • Lu HF; Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Nagoya, Japan.
  • Takeda K; Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences RIKEN, Tokyo, Japan.
  • Campos-Xavier B; School of Pharmacy, Taipei Medical University, Taipei, Taiwan.
  • Mittaz-Crettol L; Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences RIKEN, Tokyo, Japan.
  • Guo L; Department of Orthopaedic Surgery, Keio University School of Medicine, Tokyo, Japan.
  • Takikawa K; Division of Genetic Medicine, Center for Molecular Diseases, Lausanne University Hospital, University of Lausanne, Lausanne, Switzerland.
  • Nakamura M; Division of Genetic Medicine, Center for Molecular Diseases, Lausanne University Hospital, University of Lausanne, Lausanne, Switzerland.
  • Yamada S; Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences RIKEN, Tokyo, Japan.
  • Matsumoto M; Department of Orthopedics, Shizuoka Children's Hospital, Shizuoka, Japan.
  • Watanabe K; Department of Orthopaedic Surgery, Keio University School of Medicine, Tokyo, Japan.
  • Ikegawa S; Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Nagoya, Japan.
J Hum Genet ; 64(3): 261-264, 2019 Mar.
Article in En | MEDLINE | ID: mdl-30531807
ABSTRACT
Spondylocostal dysostosis (SCDO) is a heterogeneous group of skeletal disorders characterized by multiple segmentation defects involving vertebrae and ribs. Seven disease genes have been reported as causal genes for SCDO DLL3, MESP2, TBX6, HES7, RIPPLY2, DMRT2, and LFNG. Here we report a Japanese SCDO case with multiple severe vertebral anomalies from cervical to sacral spine. The patient was a compound heterozygote for c.372delG (p.K124Nfs*) and c.601G>A (p.D201N) variants of LFNG, which encodes a glycosyltransferase (O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase). The missense variant was in the DxD motif, an active-site motif of the glycosyltransferase, and its loss of the enzyme function was confirmed by an in vitro enzyme assay. This is the second report of LFNG mutations in SCDO.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Glycosyltransferases / Intracellular Signaling Peptides and Proteins / Hernia, Diaphragmatic / Hexosyltransferases / Membrane Proteins / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans / Infant / Male Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2019 Type: Article Affiliation country: Japan
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Glycosyltransferases / Intracellular Signaling Peptides and Proteins / Hernia, Diaphragmatic / Hexosyltransferases / Membrane Proteins / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans / Infant / Male Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2019 Type: Article Affiliation country: Japan