Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation.

Kenji Shimizu, Daiju Oba, Ryusuke Nambu, Manabu Tanaka, Eiji Oguma, Kei Murayama, Akira Ohtake, Koh-Ichiro Yoshiura, Hirofumi Ohashi

Molecular genetics & genomic medicine 2020 Mar

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Deafness, dystonia, and cerebral hypomyelination (DDCH) is an X-linked disorder due to hemizygous mutations of BCAP31. 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. 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. We speculate that mitochondrial dysfunction may be a feature in patients with DDCH. © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

Citation

Kenji Shimizu, Daiju Oba, Ryusuke Nambu, Manabu Tanaka, Eiji Oguma, Kei Murayama, Akira Ohtake, Koh-Ichiro Yoshiura, Hirofumi Ohashi. Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation. Molecular genetics & genomic medicine. 2020 Mar;8(3):e1129