期刊
MOLECULAR GENETICS & GENOMIC MEDICINE
卷 8, 期 3, 页码 -出版社
WILEY
DOI: 10.1002/mgg3.1129
关键词
BCAP31; DDCH; mitochondrial dysfunction
资金
- Ministry of Health, Labour and Welfare
- Japan Agency for Medical Research and Development
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.
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