Open AccessPossible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation
Author(s) -
Shimizu Kenji,
Oba Daiju,
Nambu Ryusuke,
Tanaka Manabu,
Oguma Eiji,
Murayama Kei,
Ohtake Akira,
Yoshiura Kohichiro,
Ohashi Hirofumi
Publication year - 2020
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.1129
Subject(s) - exome sequencing , mitochondrial respiratory chain , dystonia , mutation , medicine , respiratory chain , mitochondrial dna , mitochondrion , pathology , genetics , bioinformatics , biology , gene , psychiatry
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.