Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndrome.

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Abstract

Platelet α-granule biogenesis in precursor megakaryocytes is critically dependent on VPS33B and VPS16B, as demonstrated by the platelet α-granule deficiency seen in the rare multisystem disorder arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome associated with biallelic pathogenic variants in VPS33B and VIPAS39 (encoding VPS16B). VPS33B and VPS16B are ubiquitously expressed proteins that are known to interact and play key roles in protein sorting and trafficking between subcellular locations. However, there remain significant gaps in our knowledge of the nature of these interactions in primary cells from patients with ARC syndrome.

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Journal

Journal ID (iso-abbrev): J Thromb Haemost

Title: Journal of thrombosis and haemostasis : JTH

Publisher: Wiley

ISSN (Electronic): 1538-7836

ISSN (Print): 1538-7836

Publication date (Electronic): Jul 2022

Volume: 20

Issue: 7

Affiliations

[1 ] Servicio de Genética Médica y Metabolismo, Departamento de Pediatría, Hospital Nacional de Niños, "Dr. Carlos Sáenz Herrera", Caja Costarricense de Seguro Social (CCSS) & Sistema de Estudios de Posgrado, Universidad de Costa Rica, San José, Costa Rica.

[2 ] Department of Pediatrics & Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA.

[3 ] School of Cellular and Molecular Medicine, University of Bristol, Bristol, UK.

[4 ] Program in Cell Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.

[5 ] Department of Biochemistry, University of Toronto, Toronto, Ontario, Canada.

[6 ] SickKids Inflammatory Bowel Disease Center, Hospital for Sick Children, Research Institute, Toronto, Ontario, Canada.

[7 ] Departments of Paediatrics and Biochemistry, University of Toronto, Toronto, Ontario, Canada.

[8 ] Cell Biology Program, Hospital for Sick Children, Research Institute, Toronto, Ontario, Canada.

[9 ] Clínica Multidisciplinaria de Enfermedades Raras y Huérfanas, Departamento de Medicina Interna, Hospital San Juan de Dios, Caja Costarricense de Seguro Social, San José, Costa Rica.

[10 ] Servicio de Nefrología, Departamento de Pediatría, Hospital Nacional de Niños, "Dr. Carlos Sáenz Herrera", Caja Costarricense de Seguro Social & Sistema de Estudios de Posgrado, Universidad de Costa Rica, San José, Costa Rica.

[11 ] Programa Nacional de Tamizaje Neonatal, Caja Costarricense de Seguro Social, San José, Costa Rica.

[12 ] Laboratorio Nacional de Tamizaje Neonatal y Alto Riesgo, Caja Costarricense de Seguro Social, San José, Costa Rica.

[13 ] Servicio de Dermatología, Departamento de Pediatría, Hospital Nacional de Niños, "Dr. Carlos Sáenz Herrera", Caja Costarricense de Seguro Social & Sistema de Estudios de Posgrado, Universidad de Costa Rica, San José, Costa Rica.

[14 ] Laboratorio de Estudios Especializados e Investigación, Hospital Nacional de Niños, "Dr. Carlos Sáenz Herrera", Caja Costarricense de Seguro Social, San José, Costa Rica.

Article

DOI: 10.1111/jth.15711

PubMed ID: 35325493

SO-VID: dd621685-789c-4382-ba95-238ee148dc24

History

Keywords: VPS33B and VPS16B,arthrogryposis, renal dysfunction and cholestasis syndrome,human genetics,platelet disorder,platelet α-granule deficiency

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Keywords: VPS33B and VPS16B, arthrogryposis, renal dysfunction and cholestasis syndrome, human genetics, platelet disorder, platelet α-granule deficiency

Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndrome.

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