Related Experiment Video
Updated: Jun 23, 2026
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
A novel ATP7A gross deletion mutation in a Korean patient with Menkes disease
Hyung-Doo Park1, Han-Ku Moon, Jihoon Lee
1Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Abstract:
Menkes disease (MD, MIM 309400) is a fatal X-linked recessive disorder that is caused by mutations in the gene encoding ATP7A, a copper-transporting, P-type ATPase. Patients with MD are characterized by progressive hypotonia, seizures, failure to thrive, and death in early childhood. Two Korean patients were diagnosed with Menkes disease by clinical and biochemical findings. We found one missense mutation and one gross deletion in the ATP7A gene in the patients. The missense mutation in Patient 1, c.3943G>A (p.G1315R) in exon 20, was identified in a previous report. Patient 2 had a gross deletion of c.1544-?_2916+?, which was a novel mutation. The patients' mothers were shown to be carriers of the respective mutations. Prenatal DNA diagnosis in the family of Patient 2 was successfully performed, showing a male fetus with the wild-type genotype. The gross deletion is the first mutation to be identified in the ATP7A gene in Korean MD patients. We expect that our findings will be helpful in understanding the wide range of genetic variation in ATP7A in Korean MD patients.
Insights
Menkes disease, a fatal X-linked disorder, involves ATP7A gene mutations. This study identified a novel gross deletion in Korean patients, aiding genetic variation understanding.
Area of Science:
- Genetics
- Molecular Biology
- Pediatrics
Background:
- Menkes disease is a severe X-linked recessive disorder caused by mutations in the ATP7A gene, affecting copper transport.
- Clinical manifestations include hypotonia, seizures, and failure to thrive, leading to early childhood death.
Observation:
- Two Korean patients diagnosed with Menkes disease presented with distinct ATP7A gene mutations.
- Patient 1 had a previously reported missense mutation (c.3943G>A), while Patient 2 harbored a novel gross deletion (c.1544-?_2916+?).
Findings:
- Genetic analysis confirmed carrier status in both patients' mothers.
- Prenatal diagnosis in Patient 2's family identified a male fetus with a wild-type genotype.
- The identified gross deletion represents the first reported mutation of its kind in Korean Menkes disease patients.
Implications:
- These findings expand the known spectrum of ATP7A mutations in Menkes disease.
- Understanding genetic variations in the ATP7A gene is crucial for diagnosis and genetic counseling in Korean populations.
- The identification of a novel mutation highlights the importance of comprehensive genetic screening for rare diseases.
More Related Videos
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
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
01:48ATP Synthase: Mechanism
01:18ATP Synthase: Structure