Related Experiment Video

Updated: Feb 1, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.4K

Identification of novel LFNG mutations in spondylocostal dysostosis

Nao Otomo1,2, Shuji Mizumoto3, Hsing-Fang Lu1,4

  • 1Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences RIKEN, Tokyo, Japan.

Journal of Human Genetics
|December 12, 2018
PubMed

Insights

Spondylocostal dysostosis (SCDO) is a skeletal disorder. This study identifies new mutations in the LFNG gene, providing further insight into the genetic causes of SCDO.

Area of Science:

  • Genetics
  • Developmental Biology
  • Biochemistry

Background:

  • Spondylocostal dysostosis (SCDO) is a group of skeletal disorders characterized by vertebral and rib segmentation defects.
  • Seven genes, including LFNG, are known to cause SCDO.

Observation:

  • A Japanese patient presented with severe vertebral anomalies from the cervical to sacral spine.
  • The patient was found to be a compound heterozygote for two novel variants in the LFNG gene: c.372delG (p.K124Nfs*) and c.601G>A (p.D201N).

Findings:

  • The LFNG gene encodes O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase, a key enzyme in glycosylation.
  • The identified missense variant (p.D201N) is located within the DxD motif, crucial for enzyme activity.
  • In vitro enzyme assays confirmed the loss of enzymatic function for the p.D201N variant.

Implications:

  • This report is the second to link LFNG mutations to SCDO, expanding the known genetic spectrum of the disorder.
  • Understanding the functional impact of LFNG variants contributes to the diagnosis and potential therapeutic strategies for SCDO.
  • Further research into LFNG's role in skeletal development may reveal new insights into vertebral and rib formation.

More Related Videos

Quantification of Colonic Stem Cell Mutations07:53

Quantification of Colonic Stem Cell Mutations

Published on: September 25, 2015

7.0K
Pyrosequencing for Microbial Identification and Characterization12:37

Pyrosequencing for Microbial Identification and Characterization

Published on: August 22, 2013

47.9K

Related Concept Videos

Mutations01:39

Mutations

Overview
94.5K
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
44.5K
Viral Mutations00:36

Viral Mutations

A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
39.9K
Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
64.2K
Mutations in Microorganisms01:18

Mutations in Microorganisms

Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
724
Point and Frameshift Mutations01:30

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
1.2K