Dataset Information

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

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.

SUBMITTER: Shimizu K

PROVIDER: S-EPMC7057082 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature

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Publications

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

Shimizu Kenji K Oba Daiju D Nambu Ryusuke R Tanaka Manabu M Oguma Eiji E Murayama Kei K Ohtake Akira A Yoshiura Koh-Ichiro KI Ohashi Hirofumi H

Molecular genetics & genomic medicine 20200117 3

<h4>Background</h4>Deafness, dystonia, and cerebral hypomyelination (DDCH) is an X-linked disorder due to hemizygous mutations of BCAP31.<h4>Methods</h4>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.<h4>Results</h4>Mitochondrial dysfunction was suspected by respiratory chain enzyme assay on his cultured skin fibroblasts which showed significantly dec ...[more]

PMID: 31953925

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Dataset Information

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

Background

Methods

Results

Conclusion

Publications

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

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