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

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 s...

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Detalles Bibliográficos
Autores principales: Shimizu, Kenji, Oba, Daiju, Nambu, Ryusuke, Tanaka, Manabu, Oguma, Eiji, Murayama, Kei, Ohtake, Akira, Yoshiura, Koh‐ichiro, Ohashi, Hirofumi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057082/
https://www.ncbi.nlm.nih.gov/pubmed/31953925
http://dx.doi.org/10.1002/mgg3.1129
Descripción
Sumario: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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