Intellectual disability and microcephaly associated with a novel CHAMP1 mutation
Yuta Asakura1, Hitoshi Osaka2, Hiromi Aoi3
1Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
Human Genome Variation
|August 18, 2021
Summary
Mutations in the CHAMP1 gene can cause developmental disorders. A novel mutation in CHAMP1 was identified in a Japanese girl with global developmental delay and microcephaly, highlighting its role in these conditions.
Area of Science:
- Genetics
- Developmental Biology
- Molecular Medicine
Background:
- Chromosomal segregation is crucial for normal development.
- Mutations in genes involved in this process, such as chromosome alignment-maintaining phosphoprotein 1 (CHAMP1), are linked to developmental disorders.
Purpose of the Study:
- To report a novel mutation in the CHAMP1 gene.
- To investigate the association between CHAMP1 mutations and developmental disorders in a pediatric patient.
Main Methods:
- Genetic sequencing to identify mutations.
- Clinical evaluation of a patient with developmental delay and microcephaly.
Main Results:
- A novel nonsense mutation in the CHAMP1 gene was identified in the patient.
- The patient presented with global developmental delay and microcephaly.
Conclusions:
- CHAMP1 mutations are a potential cause of global developmental delay and microcephaly.
- CHAMP1 should be considered in the differential diagnosis of these conditions.
Related Concept Videos
01:29Intellectual Disability
221
Intellectual disability (ID) is a neurodevelopmental condition characterized by deficits in intellectual and adaptive functioning that manifest during the developmental period. This condition encompasses challenges in reasoning, memory, problem-solving, and learning, accompanied by impairments in everyday life skills, such as communication, self-care, and social interactions. Intellectual disability affects approximately 1% of the population in the United States, impacting an estimated 5...
221
02:30Genomic Imprinting and Inheritance
35.7K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
35.7K
02:59Animal Mitochondrial Genetics
8.3K
Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
8.3K