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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion
Human Mutation, Volume 30, No. 3, Year 2009
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Description
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. © 2008 Wiley-Liss, Inc.
Authors & Co-Authors
Denora, Paola Silvia
France, Paris
Inserm
France, Paris
Sorbonne Université
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Schlesinger, David J.
Brazil, Sao Paulo
Universidade de São Paulo
Casali, Carlo
Italy, Rome
Sapienza Università Di Roma
Kok, Fernando
Brazil, Sao Paulo
Universidade de São Paulo
Tessa, Alessandra
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Boukhris, Amir
France, Paris
Inserm
France, Paris
Sorbonne Université
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
Tunisia, Sfax
Chu Habib Bourguiba
Azzedine, Hamid
France, Paris
Inserm
France, Paris
Sorbonne Université
France, Angers
Chu Angers
Dotti, Maria Teresa
Italy, Siena
Università Degli Studi Di Siena
Bruno, Claudio
Italy, Genoa
Università Degli Studi Di Genova
Truchetto, Jérémy
France, Paris
Inserm
France, Paris
Sorbonne Université
Biancheri, Roberta
Italy, Genoa
Università Degli Studi Di Genova
Fedirko, Estelle
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
Di Rocco, Maja
Italy, Genoa
Università Degli Studi Di Genova
Bueno, Clarissa
Brazil, Sao Paulo
Universidade de São Paulo
Malandrini, Alessandro
Italy, Siena
Università Degli Studi Di Siena
Battini, Roberta
Italy, San Miniato
Irccs Fondazione Stella Maris
Sickl, Elisabeth
Austria, Modling
Children Hospital
De Leva, Maria Fulvia
Italy, Naples
Università Degli Studi Di Napoli Federico Ii
Boespflüg-Tanguy, Odile
France, Paris
Inserm
Silvestri, Gabriella
Italy, Rome
Università Cattolica Del Sacro Cuore, Campus Di Roma
Italy, Milan
Fondazione Don Carlo Gnocchi
Simonati, Alessandro
Italy, Verona
Università Degli Studi Di Verona
Said, Edith
Malta, Msida
L-università Ta' Malta
Ferbert, Andreas
Germany, Kassel
Universität Kassel
Criscuolo, Chiara
Italy, Naples
Università Degli Studi Di Napoli Federico Ii
Heinimann, Karl
Switzerland, Basel
Universitat Basel
Modoni, Anna
Italy, Rome
Università Cattolica Del Sacro Cuore, Campus Di Roma
Italy, Milan
Fondazione Don Carlo Gnocchi
Weber, Peter
Switzerland, Basel
Universitat Basel
Palmeri, Silvia
Italy, Siena
Università Degli Studi Di Siena
Plasilova, Martina
Switzerland, Basel
Universitat Basel
Pauri, Flavia
Italy, Rome
Sapienza Università Di Roma
Cassandrini, Denise
Italy, Genoa
Università Degli Studi Di Genova
Battisti, Carla
Italy, Siena
Università Degli Studi Di Siena
Pini, Antonella
Italy, Bologna
Ospedale Maggiore
Tosetti, Michela
Italy, San Miniato
Irccs Fondazione Stella Maris
Hauser, Erwin
Austria, Modling
Children Hospital
Masciullo, Marcella
Italy, Rome
Università Cattolica Del Sacro Cuore, Campus Di Roma
Italy, Milan
Fondazione Don Carlo Gnocchi
Di Fabio, Roberto
Brazil, Sao Paulo
Universidade de São Paulo
Piccolo, Francesca
Italy, Naples
Università Degli Studi Della Campania Luigi Vanvitelli
Denis, Elodie
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
Cioni, Giovanni
Italy, San Miniato
Irccs Fondazione Stella Maris
Massa, Roberto
Italy, Rome
Università Degli Studi Di Roma Tor Vergata
Della Giustina, Elvio
Italy, Reggio Emilia
Azienda Ospedaliera Santa Maria Nuova Di Reggio Emilia
Calabrese, Olga
Italy, Ferrara
University of Ferrara
Melone, Marina A.B.
Italy, Naples
Università Degli Studi Della Campania Luigi Vanvitelli
De Michele, Giuseppe
Italy, Naples
Università Degli Studi Di Napoli Federico Ii
Federico, Antonio
Italy, Siena
Università Degli Studi Di Siena
Bertini, Enrico Silvio
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Dürr, Alexandra
France, Paris
Inserm
France, Paris
Sorbonne Université
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
Brockmann, Knut
Germany, Gottingen
Georg-august-universität Göttingen
van der Knaap, Marjo S.
Netherlands, Amsterdam
Amsterdam Umc - Vrije Universiteit Amsterdam
Zatz, Mayana
Brazil, Sao Paulo
Universidade de São Paulo
Filla, Alessandro
Italy, Naples
Università Degli Studi Di Napoli Federico Ii
Brice, Alexis
France, Paris
Inserm
France, Paris
Sorbonne Université
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
Stévanin, Giovanni
France, Paris
Inserm
France, Paris
Sorbonne Université
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
Santorelli, Filippo Maria
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Statistics
Citations: 69
Authors: 55
Affiliations: 26
Identifiers
Doi:
10.1002/humu.20945
ISSN:
10597794
Research Areas
Cancer
Genetics And Genomics
Study Design
Cross Sectional Study