INTRODUCTIONBCAP31 is an endoplasmic reticulum (ER) membrane protein. It takes part in ER‐associated degradation, export of ER proteins to the Golgi apparatus, and programmed cell death (Cacciagli et al., ). BCAP31 is encoded by BCAP31, located on human Xq28. BCAP31 is highly expressed in neurons. Cacciagli et al. () described first seven patients with pathogenic mutations in BCAP31 from three unrelated families. All affected males presented with severe global developmental delay, dystonia, deafness, failure to thrive, microcephaly, and dysmorphic facial features, called deafness, dystonia and cerebral hypomyelination (DDCH) syndrome (OMIM#300475) (Cacciagli et al. ). Distal Xq28 microdeletions involving BCAP31, SLC6A8, and ABCD1 have been reported in males with developmental delays, growth failure, liver dysfunction, and early death (Calhoun & Raymond, ; Corzo et al., ).We report a new patient with BCAP31‐associated encephalopathy, DDCH syndrome, identified by whole exome sequencing (WES). Our patient's clinical features and bilateral increased signal intensities in globus pallidus in brain magnetic resonance imaging (MRI) raised suspicion of mitochondrial encephalopathy. Findings of prominent subsarcolemmal collection of mitochondria and pleomorphic mitochondria on muscle biopsy guided further mitochondrial molecular studies with no genetic confirmation. We summarized all patients with isolated BCAP31‐associated encephalopathy, DDCH syndrome, reported in the literature
American Journal of Medical Genetics Part A – Wiley
Published: Jun 1, 2017
Keywords: ; ; ; ; ;
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