Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness

Osaka, Hitoshi; Takagi, Atsushi; Tsuyusaki, Yu; Wada, Takahito; Iai, Mizue; Yamashita, Sumimasa; Shimbo, Hiroko; Saitsu, Hirotomo; Salomons, Gajja S.; Jakobs, Cornelis; Aida, Noriko; Shinka, Toshikatsu; Kuhara, Tomiko; Matsumoto, Naomichi

doi:10.1016/j.ymgme.2012.02.018

Cited by 30 publications

(32 citation statements)

References 20 publications

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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%

Section: Resultsmentioning

confidence: 99%

“…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. Additionally 26 previously reported male patients from 23 families1 2 6–9 11 12 14 17–19 22 24 26 28 30 32–36 were included.…”

Section: Resultsmentioning

confidence: 99%

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Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

et al. 2013

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Section: Discussionmentioning

confidence: 88%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

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Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

et al. 2013

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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%

X‐linked creatine transporter deficiency: clinical aspects and pathophysiology

Kamp

Mancini

Salomons

2014

J of Inher Metab Disea

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Creatine transporter deficiency was discovered in 2001 as an X-linked cause of intellectual disability characterized by cerebral creatine deficiency. This review describes the current knowledge regarding creatine metabolism, the creatine transporter and the clinical aspects of creatine transporter deficiency. The condition mainly affects the brain while other creatine requiring organs, such as the muscles, are relatively spared. Recent studies have provided strong evidence that creatine synthesis also occurs in the brain, leading to the intriguing question of why cerebral creatine is deficient in creatine transporter deficiency. The possible mechanisms explaining the cerebral creatine deficiency are discussed. The creatine transporter knockout mouse provides a good model to study the disease. Over the past years several treatment options have been explored but no treatment has been proven effective. Understanding the pathogenesis of creatine transporter deficiency is of paramount importance in the development of an effective treatment.

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“…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%

Contiguous ABCD1 DXS1357E deletion syndrome: Report of an autopsy case

et al. 2012

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Contiguous ABCD1 DXS1357E deletion syndrome (CADDS) is a contiguous deletion syndrome involving the ABCD1 and DXS1357E/BAP31 genes on Xq28. Although ABCD1 is responsible for X-linked adrenoleukodystrophy (X-ALD), its phenotype differs from that of CADDS, which manifests with many features of Zellweger syndrome (ZS), including severe growth and developmental retardation, liver dysfunction, cholestasis and early infantile death. We report here the fourth case of CADDS, in which a boy had dysmorphic features, including a flat orbital edge, hypoplastic nose, micrognathia, inguinal hernia, micropenis, cryptorchidism and club feet, all of which are shared by ZS. The patient achieved no developmental milestones and died of pneumonia at 8 months. Biochemical studies demonstrated abnormal metabolism of very long chain fatty acids, which was higher than that seen in X-ALD. Immunocytochemistry and Western blot showed the absence of ALD protein (ALDP) despite the presence of other peroxisomal proteins. Pathological studies disclosed a small brain with hypomyelination and secondary hypoxic-ischemic changes. Neuronal heterotopia in the white matter and leptomeningeal glioneuronal heterotopia indicated a neuronal migration disorder. The liver showed fibrosis and cholestasis. The thymus and adrenal glands were hypoplastic. Array comparative genomic hybridization (CGH) analysis suggested that the deletion was a genomic rearrangement in the 90-kb span starting in DXS1357E/BACP31 exon 4 and included ABCD1, PLXNB3, SRPK3, IDH3G and SSR4, ending in PDZD4 exon 8. Thus, the absence of ALDP, when combined with defects in the B-cell antigen receptor associated protein 31 (BAP31) and other factors, severely affects VLCFA metabolism on peroxisomal functions and produces ZS-like pathology.

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Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness

Cited by 30 publications

References 20 publications

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

X‐linked creatine transporter deficiency: clinical aspects and pathophysiology

Contiguous ABCD1 DXS1357E deletion syndrome: Report of an autopsy case

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