Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2015-05

AUTHORS

Naiara Akizu, Vincent Cantagrel, Maha S Zaki, Lihadh Al-Gazali, Xin Wang, Rasim Ozgur Rosti, Esra Dikoglu, Antoinette Bernabe Gelot, Basak Rosti, Keith K Vaux, Eric M Scott, Jennifer L Silhavy, Jana Schroth, Brett Copeland, Ashleigh E Schaffer, Philip L S M Gordts, Jeffrey D Esko, Matthew D Buschman, Seth J Field, Gennaro Napolitano, Ghada M Abdel-Salam, R Koksal Ozgul, Mahmut Samil Sagıroglu, Matloob Azam, Samira Ismail, Mona Aglan, Laila Selim, Iman G Mahmoud, Sawsan Abdel-Hadi, Amera El Badawy, Abdelrahim A Sadek, Faezeh Mojahedi, Hulya Kayserili, Amira Masri, Laila Bastaki, Samia Temtamy, Ulrich Müller, Isabelle Desguerre, Jean-Laurent Casanova, Ali Dursun, Murat Gunel, Stacey B Gabriel, Pascale de Lonlay, Joseph G Gleeson

ABSTRACT

Pediatric-onset ataxias often present clinically as developmental delay and intellectual disability, with prominent cerebellar atrophy as a key neuroradiographic finding. Here we describe a new clinically distinguishable recessive syndrome in 12 families with cerebellar atrophy together with ataxia, coarsened facial features and intellectual disability, due to truncating mutations in the sorting nexin gene SNX14, encoding a ubiquitously expressed modular PX domain-containing sorting factor. We found SNX14 localized to lysosomes and associated with phosphatidylinositol (3,5)-bisphosphate, a key component of late endosomes/lysosomes. Patient-derived cells showed engorged lysosomes and a slower autophagosome clearance rate upon autophagy induction by starvation. Zebrafish morphants for snx14 showed dramatic loss of cerebellar parenchyma, accumulation of autophagosomes and activation of apoptosis. Our results characterize a unique ataxia syndrome due to biallelic SNX14 mutations leading to lysosome-autophagosome dysfunction. More... »

PAGES

528-534

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng.3256

DOI

http://dx.doi.org/10.1038/ng.3256

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1020013801

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25848753


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657 https://www.grid.ac/institutes/grid.7776.1 schema:alternateName Cairo University
658 schema:name Department of Pediatric Neurology, Children's Hospital, Cairo University, Cairo, Egypt.
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660 https://www.grid.ac/institutes/grid.9601.e schema:alternateName Istanbul University
661 schema:name Medical Genetics Department, Istanbul University, Istanbul Medical Faculty, Istanbul, Turkey.
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663 https://www.grid.ac/institutes/grid.9670.8 schema:alternateName University of Jordan
664 schema:name Division of Child Neurology, Department of Pediatrics, University of Jordan, Amman, Jordan.
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