Deafness, dystonia, and cerebral hypomyelination

Definition:

Deafness, dystonia, and cerebral hypomyelination (DDCH) is a severe X-linked syndrome, characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, and white-matter changes. Mutations in BCAP31, that encodes BAP31, cause this disease. BAP31 is a chaperone protein involved in several pathways, including ER associated degradation, export of ER proteins to the Golgi apparatus, and programmed cell death.

References:

[1]. Deyanira Corzo, et al. Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. Am J Hum Genet. 2002 Jun;70(6):1520-31. [Content Brief]

[2]. Pierre Cacciagli, 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 Sep 5;93(3):579-86. [Content Brief]

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