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Case Report
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| Novel VPS33B mutations of G514S gene cause an arthrogryposis, renal dysfunction and cholestasis syndrome | ||||||
| Seçil Conkar1, Ebru Yilmaz2, Sevgi Mir1, Afig Berdeli3 | ||||||
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1Ege University Faculty of Medicine, Deparment of Pediatric Nephrology, Izmir, Turkey.
2Dr Behcet Uz Children Diseases Teaching and Research Hospital, Izmir, Turkey. 3Ege University Faculty of Medicine, Deparment of Molecular Genetics, Izmir, Turkey. | ||||||
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| How to cite this article |
| Conkar S, Yilmaz E, Mir S, Berdeli A. Novel VPS33B mutations of G514S gene cause an arthrogryposis, renal dysfunction and cholestasis syndrome. Int J Case Rep Imag 2016;7(4):216–220. |
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Abstract
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Introduction:
Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare multisystem disorder first described in 1979 and recently attributed to mutation in VPS33B, whose product acts in intracellular trafficking. It shows wide clinical variability. The characteristic features of ARC core phenotype include arthrogryposis, spillage of various substances in the urine, and conjugated hyperbilirubinemia. In some patients, these features are sometimes accompanied by different manifestations, such as ichthyosis, central nervous system malformation, deafness, and platelet abnormalities. Many patients with different associations of cholestasis, renal tubular acidosis, and dysmorphic morphology may be underdiagnosed.
Case Report: We assessed the clinical characteristics of patients and investigated the VPS33B mutation in the gene G514S in a Turkish patient with ARC syndrome. We reported one Turkish patient with ARC syndrome, along with the presentations of renal tubular dysfunction, cholestasis, arthrogryposis, VPS33B Mutations in the gene G514S. Conclusion: This case shows that the variability of different manifestations of ARC syndrome is well described. However, the presence of the mutations VPS33B in the gene G514S has not been reported before. Our findings advance the knowledge of the molecular pathways determining cell polarity and provide new evidence on the role of intracellular trafficking proteins in regulation of epithelial polarization. Further, the fundamental defects in growth and differentiation of epithelial tissues observed in ARC and in knockdown cell lines emphasize the importance of the VPS33B pathway for organ development and function. We found a novel mutation in a Turkish patient with ARC syndrome. | |
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Keywords:
Arthrogryposis-renal dysfunction-cholestasis (ARC), Cholestasis, Renal tubular dysfunction, Mutations in VPS33B gene
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Author Contributions
Seçil Conkar – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published Ebru Yilmaz – Analysis and interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published Sevgi Mir – Analysis and interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published Afig Berdeli – Analysis and interpretation of data, Revising it critically for important intellectual content, Final approval of the version to be published |
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Guarantor of submission
The corresponding author is the guarantor of submission. |
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Source of support
None |
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Conflict of interest
Authors declare no conflict of interest. |
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Copyright
© 2016 Seçil Conkar et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information. |
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