Identification of novel LFNG mutations in spondylocostal dysostosis

Nao Otomo, Shuji Mizumoto, Hsing Fang Lu, Kazuki Takeda, Belinda Campos-Xavier, Lauréane Mittaz-Crettol, Long Guo, Kazuharu Takikawa, Masaya Nakamura, Shuhei Yamada, Morio Matsumoto, Kota Watanabe, Shiro Ikegawa

研究成果: Article

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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.

元の言語English
ページ(範囲)261-264
ページ数4
ジャーナルJournal of Human Genetics
64
発行部数3
DOI
出版物ステータスPublished - 2019 3 1

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Otomo, N., Mizumoto, S., Lu, H. F., Takeda, K., Campos-Xavier, B., Mittaz-Crettol, L., Guo, L., Takikawa, K., Nakamura, M., Yamada, S., Matsumoto, M., Watanabe, K., & Ikegawa, S. (2019). Identification of novel LFNG mutations in spondylocostal dysostosis. Journal of Human Genetics, 64(3), 261-264. https://doi.org/10.1038/s10038-018-0548-2