Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

Denora, Paola S. and Schlesinger, David and Casali, Carlo and Kok, Fernando and Tessa, Alessandra and Boukhris, Amir and Azzedine, Hamid and Dotti, Maria Teresa and Bruno, Claudio and Truchetto, Jeremy and Biancheri, Roberta and Fedirko, Estelle and Di Rocco, Maja and Bueno, Clarissa and Malandrini, Alessandro and Battini, Roberta and Sickl, Elisabeth and de Leva, Maria Fulvia and Boespflug-Tanguy, Odile and Silvestri, Gabriella and Simonati, Alessandro and Said, Edith and Ferbert, Andreas and Criscuolo, Chiara and Heinimann, Karl and Modoni, Anna and Weber, Peter and Palmeri, Silvia and Plasilova, Martina and Pauri, Flavia and Cassandrini, Denise and Battisti, Carla and Pini, Antonella and Tosetti, Michela and Hauser, Erwin and Masciullo, Marcella and Di Fabio, Roberto and Piccolo, Francesca and Denis, Elodie and Cioni, Giovanni and Massa, Roberto and Della Giustina, Elvio and Calabrese, Olga and Melone, Marina A. B. and De Michele, Giuseppe and Federico, Antonio and Bertini, Enrico and Durr, Alexandra and Brockmann, Knut and van der Knaap, Marjo S. and Zatz, Mayana and Filla, Alessandro and Brice, Alexis and Stevanin, Giovanni and Santorelli, Filippo M.. (2009) Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Human mutation : variations, databases, and diseases, Vol. 30 , E500-519.

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Official URL: http://edoc.unibas.ch/dok/A6003845

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Abstract

Autosomal recessive spastic paraplegia with thinning of corpus callosum (ARHSP-TCC) is a complex form of HSP initially described in Japan but subsequently reported to have a worldwide distribution with a particular high frequency in multiple families from the Mediterranean basin. We recently showed that ARHSP-TCC is commonly associated with mutations in SPG11/KIAA1840 on chromosome 15q. We have now screened a collection of new patients mainly originating from Italy and Brazil, in order to further ascertain the spectrum of mutations in SPG11, enlarge the ethnic origin of SPG11 patients, determine the relative frequency at the level of single Countries (i.e., Italy), and establish whether there is one or more common mutation. In 25 index cases we identified 32 mutations; 22 are novel, including 9 nonsense, 3 small deletions, 4 insertions, 1 in/del, 1 small duplication, 1 missense, 2 splice-site, and for the first time a large genomic rearrangement. This brings the total number of SPG11 mutated patients in the SPATAX collection to 111 cases in 44 families and in 17 isolated cases, from 16 Countries, all assessed using homogeneous clinical criteria. While expanding the spectrum of mutations in SPG11, this larger series also corroborated the notion that even within apparently homogeneous population a molecular diagnosis cannot be achieved without full gene sequencing.

Faculties and Departments:	03 Faculty of Medicine > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Neuro- und Entwicklungspädiatrie (Weber) 03 Faculty of Medicine > Departement Klinische Forschung > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Neuro- und Entwicklungspädiatrie (Weber) 03 Faculty of Medicine > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Medizinische Genetik (Miny) 03 Faculty of Medicine > Departement Klinische Forschung > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Medizinische Genetik (Miny)
UniBasel Contributors:	Weber, Peter and Heinimann, Karl
Item Type:	Article, refereed
Article Subtype:	Research Article
Publisher:	Wiley-Liss
ISSN:	1098-1004
Note:	Publication type according to Uni Basel Research Database: Journal article
Related URLs:	Document
Identification Number:	pmid: 19105190
Last Modified:	01 Mar 2013 11:14
Deposited On:	01 Mar 2013 11:11

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