Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation
Open Access
- 17 January 2020
- journal article
- research article
- Published by Wiley in Molecular Genetics & Genomic Medicine
- Vol. 8 (3) , e1129
Abstract
Background: Deafness, dystonia, and cerebral hypomyelination (DDCH) is an X‐linked disorder due to hemizygous mutations of BCAP31.Methods: We report an 8‐year‐old boy with DDCH who possibly accompanied mitochondrial dysfunction. Clinical evaluation, respiratory chain enzyme assay, and whole exome sequencing analysis were performed.Results: Mitochondrial dysfunction was suspected by respiratory chain enzyme assay on his cultured skin fibroblasts which showed significantly decreased complex I enzyme activity. Whole exome sequencing analysis revealed a recurrent BCAP31 mutation (c.97C>T:p.Gln33*) which confirmed the diagnosis of DDCH for the patient.Conclusion: We speculate that mitochondrial dysfunction may be a feature in patients with DDCH.Keywords
Funding Information
- Ministry of Health, Labour and Welfare
- Japan Agency for Medical Research and Development
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