ArticleJournal of human genetics2019
Identification of novel LFNG mutations in spondylocostal dysostosis.
Article in Journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review.Journal of human genetics · 2024Pooled it
- Novel Splice Variant in theDiagnostics (Basel, Switzerland) · 2025Article
- Molecular landscape of congenital vertebral malformations: recent discoveries and future directions.Orphanet journal of rare diseases · 2024Review
- Functional Characterization of NovelHuman mutation · 2023Article
- Clinical genetics of spondylocostal dysostosis: A mini review.Frontiers in genetics · 2022Review
- Altered Cogs of the Clock: Insights into the Embryonic Etiology of Spondylocostal Dysostosis.Journal of developmental biology · 2021Review
- Other Types of Glycosylation.Advances in experimental medicine and biology · 2021Article
- Role of somite patterning in the formation of Weberian apparatus and pleural rib in zebrafish.Journal of anatomy · 2020Article
Corrections and comments
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Authors and funding
13 authors at 5 institutions in 3 countries.
Funding
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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.