2012
DOI: 10.1016/j.ymgme.2012.02.018
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Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness

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Cited by 30 publications
(32 citation statements)
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“…A severe phenotype has been reported in three patients with multi-exon deletions of the SLC6A8 gene 12 31. We now know that the deletion included the neighbouring BCAP31 gene in two patients but in the third patient the breakpoint was located in the non-coding region between the SLC6A8 and BCAP31 gene.…”
Section: Discussionmentioning
confidence: 88%
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“…A severe phenotype has been reported in three patients with multi-exon deletions of the SLC6A8 gene 12 31. We now know that the deletion included the neighbouring BCAP31 gene in two patients but in the third patient the breakpoint was located in the non-coding region between the SLC6A8 and BCAP31 gene.…”
Section: Discussionmentioning
confidence: 88%
“…A total of 30 of these 77 patients were also reported in previous case reports or treatment trials 7 10 12 13 15 16 20–23 26 27 29 31 42. Two patients were excluded because of the presence of a large deletion including neighbouring gene(s) 12 31.…”
Section: Resultsmentioning
confidence: 99%
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“…The pathogenicity of neutral or intronic variants should be confirmed by bioinformatic analysis and mRNA analysis (Betsalel et al 2011). Multi-exon deletions of the SLC6A8 gene, extending beyond the 3' end of SLC6A8 are associated with a very severe phenotype with severe hypotonia and motor delay and extrapiramidal movement disorder (Anselm et al 2006;Osaka et al 2012;van de Kamp et al 2013a). In some patients, this can be explained by involvement of the neighboring BCAP31 gene in the deletion because isolated BCAP31 defects were recently described as a cause of profound developmental delay with dystonia, and deafness (Cacciagli et al 2013).…”
Section: Genotypementioning
confidence: 99%
“…BAP31, a multi‐pass transmembrane protein in the endoplasmic reticulum, is involved in the anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi apparatus and in caspase 8‐mediated apoptosis . Contiguous deletion involving DXS1357E/BAP31 but not ABCD1 manifests with severe dystonia, profound intellectual/developmental disability, liver dysfunction and sensorineural hearing difficulty, suggesting the contribution of BAP31 to some phenotypes of CADDS. We herein report the clinical and pathological findings in a fourth patient with CADDS.…”
Section: Introductionmentioning
confidence: 99%