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BCAP31‐associated encephalopathy and complex movement disorder mimicking mitochondrial encephalopathy

BCAP31‐associated encephalopathy and complex movement disorder mimicking mitochondrial... 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 http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Part A Wiley

BCAP31‐associated encephalopathy and complex movement disorder mimicking mitochondrial encephalopathy

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Publisher
Wiley
Copyright
© 2017 Wiley Periodicals, Inc.
ISSN
1552-4825
eISSN
1552-4833
DOI
10.1002/ajmg.a.38127
pmid
28332767
Publisher site
See Article on Publisher Site

Abstract

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

Journal

American Journal of Medical Genetics Part AWiley

Published: Jun 1, 2017

Keywords: ; ; ; ; ;

References

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