TY - JOUR
T1 - Identification of novel LFNG mutations in spondylocostal dysostosis
AU - Otomo, Nao
AU - Mizumoto, Shuji
AU - Lu, Hsing Fang
AU - Takeda, Kazuki
AU - Campos-Xavier, Belinda
AU - Mittaz-Crettol, Lauréane
AU - Guo, Long
AU - Takikawa, Kazuharu
AU - Nakamura, Masaya
AU - Yamada, Shuhei
AU - Matsumoto, Morio
AU - Watanabe, Kota
AU - Ikegawa, Shiro
N1 - Publisher Copyright:
© 2018, The Author(s) under exclusive licence to The Japan Society of Human Genetics.
PY - 2019/3/1
Y1 - 2019/3/1
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/85058150557
U2 - 10.1038/s10038-018-0548-2
DO - 10.1038/s10038-018-0548-2
M3 - 文章
C2 - 30531807
AN - SCOPUS:85058150557
SN - 1434-5161
VL - 64
SP - 261
EP - 264
JO - Journal of Human Genetics
JF - Journal of Human Genetics
IS - 3
ER -