Related Experiment Video
Updated: Nov 2, 2025
Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo
Published on: September 22, 2017
[A novel frameshift NDUFV1 mutation in a child with the phenotype of optic nerve atrophy]
1Department of Ophthalmology, China-Japan Friendship Hospital, Beijing 100029, China.
Insights
A novel mutation in the NDUFV1 gene was identified in a child with optic nerve atrophy. This genetic finding offers new insights into the relationship between NDUFV1 gene mutations and their resulting phenotypes.
Area of Science:
- Genetics
- Ophthalmology
- Neuroscience
Background:
- Optic atrophy is a significant cause of vision impairment.
- Understanding the genetic basis of optic atrophy is crucial for diagnosis and treatment.
- Mitochondrial complex I dysfunction has been implicated in various neurological disorders.
Observation:
- A 13-year-old girl presented with bilateral optic nerve atrophy and impaired vision.
- Clinical examinations revealed low amplitude visual-evoked potentials (VEP) but no neurological deficits like dystonia or pyramidal tract symptoms.
- Brain MRI did not show evidence of leukodystrophy.
Findings:
- Whole exome sequencing identified a heterozygous c.53_54delTG mutation in the NDUFV1 gene (complex I).
- This mutation resulted in a frameshift (p.Val18AlafsX20), altering the NDUFV1 protein structure by truncating a critical subunit.
- A secondary intronic mutation (c.1162+4A>C) was also detected.
Implications:
- This study identifies a novel NDUFV1 gene mutation associated with optic atrophy in a pediatric patient.
- The findings contribute to the understanding of genotype-phenotype correlations for NDUFV1-related disorders.
- Further research into NDUFV1 mutations may reveal new therapeutic targets for optic neuropathies.
Objective:
To investigate the pathogenic gene in a child with optic atrophy and analyze the influence of this gene mutation on protein structure.
Objective:
We collected the clinical record of the 13-year-old girl and her relatives. The child received examinations of the visual acuity, visual field, fundus, OCT, visual-evoked potential (VEP) and the nerve system, underwent brain MRI and was followed up for 1 year. Genomic DNA was extracted from the peripheral blood of the child and her parents for next-generation sequencing of the whole exon. The pathogenic gene mutation was identified and the resultant changes in the protein structure was analyzed.
Objective:
The patient presented with impaired vision and optic nerve atrophy in both eyes with low amplitude of VEP, but did not show dystonia or pyramidal tract symptom. Brain MRI detected no leukodystrophy. Genetic analysis suggested a heterozygous c.53_54delTG mutation in exon 1 in the NDUFV1 gene of complex I, which caused a frameshift starting with the codon valine 18, thus changing the amino acid to an Alanine residue and creating a premature stop codon at position 20 of the new reading frame (p.Val18AlafsX20). A heterozygous for c.1162+4A>C: IVS8 + 4A>C in intron 8 was also found. Protein structure analysis showed the missing of important structure of NDUFV1 subunit in complex I.
Objective:
We identified a novel NDUFV1 mutation in a child with optic nerve atrophy. This finding may provide further insight into the genotype-phenotype correlations for NDUFV1 gene.
More Related Videos
06:41In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
Related Concept Videos
01:30Point and Frameshift Mutations
01:20The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...