Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome
American Journal of Human Genetics, Volume 82, No. 4, Year 2008
Notification
URL copied to clipboard!
Description
Hereditary spastic paraplegias (HSPs) are genetically and phenotypically heterogeneous disorders. Both "uncomplicated" and "complicated" forms have been described with various modes of inheritance. Sixteen loci for autosomal-recessive "complicated" HSP have been mapped. The SPG15 locus was first reported to account for a rare form of spastic paraplegia variably associated with mental impairment, pigmented maculopathy, dysarthria, cerebellar signs, and distal amyotrophy, sometimes designated as Kjellin syndrome. Here, we report the refinement of SPG15 to a 2.64 Mb genetic interval on chromosome 14q23.3-q24.2 and the identification of ZFYVE26, which encodes a zinc-finger protein with a FYVE domain that we named spastizin, as the cause of SPG15. Six different truncating mutations were found to segregate with the disease in eight families with a phenotype that included variable clinical features of Kjellin syndrome. ZFYVE26 mRNA was widely distributed in human tissues, as well as in rat embryos, suggesting a possible role of this gene during embryonic development. In the adult rodent brain, its expression profile closely resembled that of SPG11, another gene responsible for complicated HSP. In cultured cells, spastizin colocalized partially with markers of endoplasmic reticulum and endosomes, suggesting a role in intracellular trafficking. © 2008 The American Society of Human Genetics.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC2427184/bin/mmc1.pdf
Authors & Co-Authors
Hanein, Sylvain
France, Paris
Inserm
France, Paris
Sorbonne Université
Martin, Elodie M.
France, Paris
Inserm
France, Paris
Sorbonne Université
Boukhris, Amir
France, Paris
Inserm
France, Paris
Sorbonne Université
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Tunisia, Sfax
Chu Habib Bourguiba
Byrne, Paula
Ireland, Dublin
University College Dublin
Goizet, Cyril
France, Paris
Inserm
France, Paris
Sorbonne Université
France, Bordeaux
Université de Bordeaux
Hamri, Abdelmadjid
Algeria, Constantine
Centre Hospitalo-universitaire dr Benbadis Constantine
Benomar, Ali
Morocco, Agdal Rabat
Ibn Sina Hospital, Agdal Rabat
Lossos, Alexander
Israel, Jerusalem
Hadassah University Medical Centre
Denora, Paola Silvia
France, Paris
Inserm
France, Paris
Sorbonne Université
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Fernandez, J. C.
France, Paris
Inserm
France, Paris
Sorbonne Université
Elleuch, Nizar
Tunisia, Sfax
Chu Habib Bourguiba
Forlani, Sylvie
France, Paris
Inserm
France, Paris
Sorbonne Université
Dürr, Alexandra
France, Paris
Inserm
France, Paris
Sorbonne Université
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Feki, Imed
Tunisia, Sfax
Chu Habib Bourguiba
Hutchinson, Michael
Ireland, Dublin
University College Dublin
Santorelli, Filippo Maria
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Mhiri, Chokri
Tunisia, Sfax
Chu Habib Bourguiba
Brice, Alexis
France, Paris
Inserm
France, Paris
Sorbonne Université
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Stévanin, Giovanni
France, Paris
Inserm
France, Paris
Sorbonne Université
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Statistics
Citations: 199
Authors: 19
Affiliations: 10
Identifiers
Doi:
10.1016/j.ajhg.2008.03.004
ISSN:
00029297
Research Areas
Genetics And Genomics