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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia
Brain, Volume 133, No. 8, Year 2010
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Description
We have identified a novel form of recessive ataxia that segregates in three children of a large consanguineous Saudi Arabian family. The three patients presented with childhood onset gait and limb ataxia, dysarthria and had limited walking without aid into their teenage years. Two patients developed epilepsy at 7 months without relapse after treatment, and mental retardation. Linkage studies allowed us to identify a single locus that segregated with the disease on chr omosome 3q28-qter. Mutation screening of all coding sequences revealed a single nucleotide deletion, 2927delC, in exon 19 of the KIAA0226 gene, which results in a frame shift of the C-terminal domain (p.Ala943ValfsX146). The KIAA0226 gene encodes a protein that we named rundataxin, with two conserved domains: an N-terminal RUN domain and a C-terminal domain containing a diacylglycerol binding-like motif. The closest paralogue of rundataxin, the plekstrin homology domain family member M1, has been shown to colocalize with Rab7, a small GTPase associated with late endosomes/lysosomes, suggesting that rundataxin may also be associated with vesicular trafficking and signalling pathways through its RUN and diacylglycerol binding-like domains. The rundataxin pathway appears therefore distinct from the ataxia pathways involving deficiency in mitochondrial or nuclear proteins and broadens the range of mechanisms leading to recessive ataxias. © (2010) The Author.
Authors & Co-Authors
Assoum, Mirna
France, Strasbourg
Université de Strasbourg
Salih, Mustafa Abdalla M.
Saudi Arabia, Riyadh
College of Medicine
Drouot, Nathalie
France, Strasbourg
Université de Strasbourg
H´mida, Dorra
France, Strasbourg
Université de Strasbourg
Tunisia, Sousse
Hopital Farhat Hached Sousse
Lagier-Tourenne, Clotilde
France, Strasbourg
Université de Strasbourg
United States, La Jolla
University of California, San Diego
AlDrees, Abdulmajeed Abdurrahman
Saudi Arabia, Riyadh
College of Medicine
Elmalik, Salah A.
Saudi Arabia, Riyadh
College of Medicine
Ahmed, Taha S.
Saudi Arabia, Riyadh
College of Medicine
Seidahmed, Mohammed Zain
Saudi Arabia, Riyadh
Security Forces Hospital Program Riyadh
Kabiraj, Mohammad Muslim Uddin
Saudi Arabia, Riyadh
Riyadh Military Hospital
Kœnig, Michel
France, Strasbourg
Université de Strasbourg
Statistics
Citations: 51
Authors: 11
Affiliations: 6
Identifiers
Doi:
10.1093/brain/awq181
e-ISSN:
14602156
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health