Albanyan S et al. BCAP31-associated encephalopathy and complex movement disorder mimicking mitochondrial encephalopathy. Am J Med Genet A. 2017;173(6):1640-3. PMID: 28332767.
Cacciagli P et al. Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia and central hypomyelination and disorganize the Golgi apparatus. Am J Hum Genet. 2013;93(3):579-86. PMID: 24011989.
van de Kamp JM et al. Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1. Clin Genet. 2015;87(2):141-7. PMID: 24597975.
Kao HJ et al. De novo mutation and skewed X-inactivation in girl with BCAP31-related syndrome. Hum Mutat. 2020;41(10):1775-82. PMID: 32652807.
Quistgaard EM. BAP31: physiological functions and roles in disease. Biochimie. 2021;186:105-29. PMID: 33930507.
Rinaldi B et al. BCAP31-related syndrome: the first de novo report. Eur J Med Genet. 2020;63(2):103732. PMID: 31330203.
Shimizu K et al. Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 mutation. Mol Genet Genomic Med. 2020;8(3):e1129. PMID: 31953925.
Whalen S et al. Further delineation of BCAP-31-linked intellectual disability: description of 17 new families with LoF and missense variants. Eur J Hum Genet. 2021;29(9):1405-17. PMID: 33603160.
BCAP31