Identification of novel LFNG mutations in spondylocostal dysostosis.

Details

Serval ID
serval:BIB_4BE03C294537
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Identification of novel LFNG mutations in spondylocostal dysostosis.
Journal
Journal of human genetics
Author(s)
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.
ISSN
1435-232X (Electronic)
ISSN-L
1434-5161
Publication state
Published
Issued date
03/2019
Peer-reviewed
Oui
Volume
64
Number
3
Pages
261-264
Language
english
Notes
Publication types: Case Reports ; Journal Article
Publication Status: ppublish
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.
Keywords
Abnormalities, Multiple/genetics, Abnormalities, Multiple/pathology, Amino Acid Sequence, Glycosyltransferases/genetics, Hernia, Diaphragmatic/genetics, Hernia, Diaphragmatic/pathology, Hexosyltransferases/genetics, Humans, Infant, Intracellular Signaling Peptides and Proteins/genetics, Male, Membrane Proteins/genetics, Mutation, Prognosis, Sequence Homology
Pubmed
Web of science
Create date
05/01/2019 16:16
Last modification date
20/08/2019 14:00
Usage data