Related Experiment Video
Updated: May 2, 2026
03:45
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
3.3K
Novel Frameshift CHD7 Mutation Related to CHARGE Syndrome
E Martínez-Quintana1, F Rodríguez-González2, P Garay-Sánchez3
1Cardiology Service, Insular-Materno Infantil University Hospital, Las Palmas de Gran Canaria, Spain.
Molecular Syndromology
|February 20, 2014
Summary
CHARGE syndrome, a rare congenital disorder, is linked to CHD7 gene mutations. A novel mutation in a 27-year-old patient resulted in a truncated protein, confirming sporadic origin.
Area of Science:
- Genetics
- Developmental Biology
- Medical Science
Background:
- CHARGE syndrome is a rare genetic disorder with multiple congenital anomalies.
- Mutations in the CHD7 gene are a primary cause of CHARGE syndrome.
- The syndrome presents with characteristic features including coloboma, heart defects, and ear anomalies.
Observation:
- A case study of a 27-year-old patient with typical CHARGE syndrome symptoms was analyzed.
- The patient presented with a novel heterozygous insertion in exon 2 of the CHD7 gene.
- Genetic analysis identified the specific mutation as c.327dupC, leading to a frameshift.
Findings:
- The identified mutation (c.327dupC) results in a p.Val110Argfs*22 amino acid substitution.
- This mutation leads to a significantly truncated CHD7 protein (131 amino acids).
- The truncated protein is likely a non-functional null allele, impacting gene function.
Implications:
- This finding expands the mutational spectrum of the CHD7 gene in CHARGE syndrome.
- Understanding novel mutations aids in accurate genetic diagnosis and counseling.
- The sporadic nature of this mutation highlights the importance of parental genetic screening.
Related Concept Videos
01:30Point and Frameshift Mutations
1.8K
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...
1.8K
01:39Mutations
66.8K
Overview
66.8K
01:35Mutations
31.2K
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...
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
31.2K
01:39Mutations
11.0K
11.0K
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
805
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
805
01:21Huntington Disease l: Introduction
110
Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show...
110