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査読

9 被引用数 (Scopus)


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.

ジャーナルJournal of Human Genetics
出版ステータスPublished - 2019 3月 1

ASJC Scopus subject areas

  • 遺伝学
  • 遺伝学(臨床)


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