Arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome: from molecular genetics to clinical features

Italian Journal of Pediatrics

Junfeng Zhang¹  Yaoyao Zhou¹ 

[1] Department of Cardiology, No. 3 People¿s Hospital, Shanghai Jiao Tong University School of Medicine, No. 280, Mohe Road, Baoshan District, Shanghai, 201900, China

关键词: VIPAR;    VPS33B;    Renal dysfunction;    Cholestasis;    Arthrogryposis;    ARC syndrome;   

Others  :  1146368
DOI  :  10.1186/s13052-014-0077-3

 received in 2014-04-23, accepted in 2014-09-01,  发布年份 2014

【 摘 要 】

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare but fatal autosomal recessive multisystem disorder caused by mutations in the VPS33B or VIPAR gene. The classical presentation of ARC includes congenital joint contractures, renal tubular dysfunction, and cholestasis. Additional features include ichthyosis, central nervous system malformation, platelet anomalies, and severe failure to thrive. Diagnosis of ARC syndrome relies on clinical features, organ biopsy, and mutational analysis. However, no specific treatment currently exists for this syndrome.

【 授权许可】

   
2014 Zhou and Zhang; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

【 参考文献 】

• [1]Lutz-Richner AR, Landolt RF: Familiare Gallengansmissbildungen mit tubularer Neireninsurfizienz. Helv Paediatr Acta 1973, 28:1-12.
• [2]Taha D, Khider A, Cullinane AR, Gissen P: A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth. Am J Med Genet A 2007, 143A(23):2835-2837.
• [3]Gissen P, Tee L, Johnson CA, Genin E, Caliebe A, Chitayat D, Clericuzio C, Denecke J, Di Rocco M, Fischler B, FitzPatrick D, Garcia-Cazorla A, Guyot D, Jacquemont S, Koletzko S, Leheup B, Mandel H, Sanseverino MT, Houwen RH, McKiernan PJ, Kelly DA, Maher ER: Clinical and molecular genetic features of ARC syndrome. Hum Genet 2006, 120(3):396-409.
• [4]Abdullah MA, Al-Hasnan Z, Okamoto E, Abomelha AM: Arthrogryposis, renal dysfunction and cholestasis syndrome. Saudi Med J 2000, 21(3):297-299.
• [5]Gissen P, Johnson CA, Morgan NV, Stapelbroek JM, Forshew T, Cooper WN, McKiernan PJ, Klomp LW, Morris AA, Wraith JE, McClean P, Lynch SA, Thompson RJ, Lo B, Quarrell OW, Di Rocco M, Trembath RC, Mandel H, Wali S, Karet FE, Knisely AS, Houwen RH, Kelly DA, Maher ER: Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Nat Genet 2004, 36(4):400-404.
• [6]Cullinane AR, Straatman-Iwanowska A, Zaucker A, Wakabayashi Y, Bruce CK, Luo G, Rahman F, Gurakan F, Utine E, Ozkan TB, Denecke J, Vukovic J, Di Rocco M, Mandel H, Cangul H, Matthews RP, Thomas SG, Rappoport JZ, Arias IM, Wolburg H, Knisely AS, Kelly DA, Muller F, Maher ER, Gissen P: Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization. Nat Genet 2010, 42(4):303-312.
• [7]Carim L, Sumoy L, Andreu N, Estivill X, Escarceller M: Cloning, mapping and expression analysis of VPS33B, the human orthologue of rat Vps33b. Cytogenet Cell Genet 2000, 89(1¿2):92-95.
• [8]Peterson MR, Emr SD: The class C Vps complex functions at multiple stages of the vacuolar transport pathway. Traffic 2001, 2(7):476-486.
• [9]Cullinane AR, Straatman-Iwanowska A, Seo JK, Ko JS, Song KS, Gizewska M, Gruszfeld D, Gliwicz D, Tuysuz B, Erdemir G, Sougrat R, Wakabayashi Y, Hinds R, Barnicoat A, Mandel H, Chitayat D, Fischler B, Garcia-Cazorla A, Knisely AS, Kelly DA, Maher ER, Gissen P: Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome. Hum Mutat 2009, 30(2):E330-E337.
• [10]Gissen P, Johnson CA, Gentle D, Hurst LD, Doherty AJ, O¿Kane CJ, Kelly DA, Maher ER: Comparative evolutionary analysis of VPS33 homologues: genetic and functional insights. Hum Mol Genet 2005, 14(10):1261-1270.
• [11]Zhu GD, Salazar G, Zlatic SA, Fiza B, Doucette MM, Heilman CJ, Levey AI, Faundez V, L¿Hernault SW: SPE-39 family proteins interact with the HOPS complex and function in lysosomal delivery. Mol Biol Cell 2009, 20(4):1223-1240.
• [12]Tornieri K, Zlatic SA, Mullin AP, Werner E, Harrison R, L¿Hernault SW, Faundez V: Vps33b pathogenic mutations preferentially affect VIPAS39/SPE-39-positive endosomes. Hum Mol Genet 2013, 22(25):5215-5228.
• [13]Ishii A, Kamimori K, Hiyoshi M, Kido H, Ohta T, Konishi H: Inhibitory effect of SPE-39 due to tyrosine phosphorylation and ubiquitination on the function of Vps33B in the EGF-stimulated cells. Febs Lett 2012, 586(16):2245-2250.
• [14]Zlatic SA, Tornieri K, L¿Hernault SW, Faundez V: Metazoan cell biology of the HOPS tethering complex. Cell Logist 2011, 1(3):111-117.
• [15]Matthews RP, Plumb-Rudewiez N, Lorent K, Gissen P, Johnson CA, Lemaigre F, Pack M: Zebrafish vps33b, an ortholog of the gene responsible for human arthrogryposis-renal dysfunction-cholestasis syndrome, regulates biliary development downstream of the onecut transcription factor hnf6. Development 2005, 132(23):5295-5306.
• [16]Arhan E, Yusufoglu AM, Sayli TR: Arc syndrome without arthrogryposis, with hip dislocation and renal glomerulocystic appearance: a case report. Eur J Pediatr 2009, 168(8):995-998.
• [17]Bull LN, Mahmoodi V, Baker AJ, Jones R, Strautnieks SS, Thompson RJ, Knisely AS: VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype. J Pediatr 2006, 148(2):269-271.
• [18]Sanseverino MT, de Souza CF, Gissen P, Sordi AO, Magalhaes JA, Schuler-Faccini L: Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in the VPS33B gene. Ultrasound Obstet Gynecol 2006, 28(2):233-234.
• [19]Deal JE, Barratt TM, Dillon MJ: Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea¿a new syndrome. Pediatr Nephrol 1990, 4(4):308-313.
• [20]Malaki M, Mandana R, Ghaffari S: ARC syndrome with complex renal problems: nephrocalcinosis, proximal and hyperkalemic distal RTA and nephrogenic diabetes insipidus. Saudi J Kidney Dis Transpl 2012, 23(4):804-809.
• [21]Jang JY, Kim KM, Kim GH, Yu E, Lee JJ, Park YS, Yoo HW: Clinical characteristics and VPS33B mutations in patients with ARC syndrome. J Pediatr Gastroenterol Nutr 2009, 48(3):348-354.
• [22]Eastham KM, McKiernan PJ, Milford DV, Ramani P, Wyllie J, Van¿T HW, Lynch SA, Morris AA: ARC syndrome: an expanding range of phenotypes. Arch Dis Child 2001, 85(5):415-420.
• [23]Choi HJ, Lee MW, Choi JH, Moon KC, Koh JK: Ichthyosis associated with ARC syndrome: ARC syndrome is one of the differential diagnoses of ichthyosis. Pediatr Dermatol 2005, 22(6):539-542.
• [24]Franceschini P, Barberis L: Arthrogryposis, renal tubular dysfunction, cholestasis, ichthyosis syndrome (ARCI). Eur J Pediatr 1997, 156(1):78.
• [25]Hershkovitz D, Mandel H, Ishida-Yamamoto A, Chefetz I, Hino B, Luder A, Indelman M, Bergman R, Sprecher E: Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B. Arch Dermatol 2008, 144(3):334-340.
• [26]Flaumenhaft R: Alpha-granules: a story in the making. Blood 2012, 120(25):4908-4909.
• [27]Saadah OI, Bokhari BE, Alshaeri TM, Jastaniah W: Haematological manifestations of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: a case report. Arab J Gastroenterol 2013, 14(1):26-28.
• [28]Lo B, Li L, Gissen P, Christensen H, McKiernan PJ, Ye C, Abdelhaleem M, Hayes JA, Williams MD, Chitayat D, Kahr WH: Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet alpha-granule biogenesis. Blood 2005, 106(13):4159-4166.
• [29]Urban D, Li L, Christensen H, Pluthero FG, Chen SZ, Puhacz M, Garg PM, Lanka KK, Cummings JJ, Kramer H, Wasmuth JD, Parkinson J, Kahr WH: The VPS33B-binding protein VPS16B is required in megakaryocyte and platelet alpha-granule biogenesis. Blood 2012, 120(25):5032-5040.
• [30]Akbar MA, Tracy C, Kahr WH, Kramer H: The full-of-bacteria gene is required for phagosome maturation during immune defense in Drosophila. J Cell Biol 2011, 192(3):383-390.
• [31]Smith H, Galmes R, Gogolina E, Straatman-Iwanowska A, Reay K, Banushi B, Bruce CK, Cullinane AR, Romero R, Chang R, Ackermann O, Baumann C, Cangul H, Cakmak CF, Aygun C, Coward R, Dionisi-Vici C, Sibbles B, Inward C, Kim CA, Klumperman J, Knisely AS, Watson SP, Gissen P: Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome. Hum Mutat 2012, 33(12):1656-1664.
• [32]Li LT, Zhao J, Chen R, Wang JS: Two novel VPS33B mutations in a patient with arthrogryposis, renal dysfunction and cholestasis syndrome in mainland China. World J Gastroenterol 2014, 20(1):326-329.
• [33]Kim KM, Kim GH, Park YS, Yoo HW: Aberrant splicing by a mutation, c.403?+?2 T?>?A, in Korean patients with arthrogryposis-renal-dysfunction-cholestasis syndrome. Pediatr Int 2011, 53(4):609-610.
• [34]Tekin N, Durmus-Aydogdu S, Dinleyici EC, Bor O, Bildirici K, Aksit A: Clinical and pathological aspects of ARC (arthrogryposis, renal dysfunction and cholestasis) syndrome in two siblings. Turk J Pediatr 2005, 47(1):67-70.
• [35]Abu-Sa¿Da O, Barbar M, Al-Harbi N, Taha D: Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review. Clin Dysmorphol 2005, 14(4):191-196.
• [36]Kim SM, Chang HK, Song JW, Koh H, Han SJ: Agranular platelets as a cardinal feature of ARC syndrome. J Pediatr Hematol Oncol 2010, 32(4):253-258.
• [37]Jang WY, Cho TJ, Bae JY, Jung HW, Ko JS, Park MS, Yoo WJ, Chung CY, Seo JK, Choi IH: Orthopaedic manifestations of arthrogryposis-renal dysfunction-cholestasis syndrome. J Pediatr Orthop 2011, 31(1):107-112.
• [38]Dehghani SM, Bahador A, Nikeghbalian S, Salahi H, Geramizadeh B, Malekpour A, Malek-Hosseini SA: Liver transplant in a case of arthrogryposis-renal tubular dysfunction-cholestasis syndrome with severe intractable pruritus. Exp Clin Transplant 2013, 11(3):290-292.