Related Experiment Video
Updated: Dec 5, 2025
Author Spotlight: Unveiling Mitochondrial Contact Sites and Architectural Insights
Published on: June 16, 2023
[Autosomal dominant intellectual disability-40 caused by a de novo mutation of the CHAMP1 gene: a case report]
Ming-Mei Wang1, Deng-Na Zhu, San-Song Li
1Department of Child Rehabilitation, Third Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China. 15136413122@163.com.
Insights
A 6-month-old boy with developmental delays was diagnosed with CHAMP1 gene mutation, a cause of autosomal dominant intellectual disability-40. Early genetic testing is crucial for children with unexplained intellectual disability and hypotonia.
Area of Science:
- Genetics
- Developmental Biology
- Neurology
Background:
- Intellectual disability (ID) encompasses a range of developmental disorders characterized by cognitive and adaptive functioning deficits.
- Genetic factors play a significant role in the etiology of ID, with numerous genes implicated.
Observation:
- A 6-month-old boy presented with global developmental delay, motor deficits, head instability, generalized weakness, and specific facial features.
- Clinical manifestations included unawareness of grasping objects and dysmorphic facial characteristics such as wide-set eyes, epicanthus, esotropia, and low-set ears.
Findings:
- Gene sequencing revealed a de novo heterozygous frameshift mutation (c.530delCinsTTT) in the CHAMP1 gene (chr13:115089847).
- This mutation resulted in an amino acid change (p.S177Ffs*2), leading to a diagnosis of autosomal dominant intellectual disability-40.
Implications:
- This case highlights the CHAMP1 gene as a potential cause of unexplained intellectual disability in children.
- Early genetic testing for CHAMP1 mutations is recommended for infants presenting with unexplained ID, particularly those with hypotonia and severe speech impairment.
Abstract:
A boy, aged 6 months, had the manifestations of intellectual and motor developmental delay, head instability, general weakness, unawareness of grasping objects by hands, and unusual facies (slightly wide eye distance, epicanthus, esotropia, mouth-opening appearance, short philtrum, and low-set ears). Gene detection results showed a de novo heterozygous frameshift mutation of the CHAMP1 gene at the chromosomal location of chr13:115089847, and nuclear acid was changed to c.530delCinsTTT, resulting in a change in amino acid to p.S177Ffs*2. Therefore, the boy was diagnosed with autosomal dominant intellectual disability-40 caused by the mutation in the CHAMP1 gene. This case report suggests that for children with unexplained intellectual disability, especially those with generalized hypotonia and severe language disorder, the possibility of CHAMP1 gene mutation should be considered, and genetic testing should be performed as early as possible.
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
01:29Intellectual Disability
02:59Animal Mitochondrial Genetics
01:43Incomplete Dominance
01:43Sex-linked Disorders
01:11Genetic Lingo
01:33Pleiotropy