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

Autor: Denora, Ps, Schlesinger, D, Casali, Carlo, Kok, F, Tessa, A, Boukhris, A, Azzedine, H, Dotti, Mt, Bruno, C, Truchetto, J, Biancheri, R, Fedirko, E, DI ROCCO, M, Bueno, C, Malandrini, A, Battini, R, Sickl, E, DE LEVA MF, BOESPFLUG TANGUY, O, Silvestri, G, Simonati, A, Said, E, Ferbert, A, Criscuolo, C, Heinimann, K, Modoni, A, Weber, P, Palmeri, S, Plasilova, M, Pauri, Flavia, Cassandrini, D, Battisti, C, Pini, A, Tosetti, M, Hauser, E, Masciullo, M, DI FABIO, R, Piccolo, F, Denis, E, Cioni, G, Massa, R, Della, Giustina, E, Calabrese, O, Melone, Ma, DE MICHELE, G, Federico, A, Bertini, E, Durr, A, Brockmann, K, VAN DER KNAAP MS, Zatz, M, Filla, A, Brice, A, Stevanin, G, Santorelli, Fm
Přispěvatelé: Denora, P., Schlesinger, D., Casali, C., Kok, F., Tessa, A., Boukhris, A., Azzedine, H., Dotti, M., Bruno, C., Trucchetto, J., Biancheri, R., Fedirko, E., DI ROCCO, M., Bueno, C., Malandrini, A., Battini, R., Sickl, E., DE LEVA, F., BOESPFLUG TANGUY, O., Silvestri, G., Simonati, A., Said, E., Ferbert, A., Criscuolo, C., Heinimann, K., Modoni, A., Weber, P., Palmeri, S., Plasilova, M., Pauri, F., Cassandrini, D., Battisti, C., Pini, A., Tosetti, M., Hauser, E., Masciullo, M., DI FABIO, R., Piccolo, F., Denis, E., Cioni, G., Massa, R., DELLA GIUSTINA, E., Calabrese, O., Melone, Mariarosa Anna Beatrice, DE MICHELE, G., Federico, A., Bertini, E., Durr, A., Brockmann, K., VAN DER KNAPP, M., Zatz, M., Filla, A., Brice, A., Stevanin, G., Santorelli, F., Pediatric surgery, NCA - Childhood White Matter Diseases, Denora, P, Schlesinger, D, Casali, C, Kok, F, Tessa, A, Boukhris, A, Azzedine, H, Dotti, Mt, Bruno, C, Truchetto, J, Biancheri, R, Fedirko, E, Di Rocco, M, Bueno, C, Malandrini, A, Battini, R, Sickl, E, de Leva, Mf, Boespflug Tanguy, O, Silvestri, G, Simonati, A, Said, E, Ferbert, A, Criscuolo, C, Heinimann, K, Modoni, A, Weber, P, Palmeri, S, Plasilova, M, Pauri, F, Cassandrini, D, Battisti, C, Pini, A, Tosetti, M, Hauser, E, Masciullo, M, Fabio, Rd, Piccolo, F, Denis, E, Cioni, G, Massa, R, Giustina, Ed, Calabrese, O, Melone, Ma, DE MICHELE, Giuseppe, Federico, A, Bertini, E, Durr, A, Brockmann, K, van der Knaap, M, Zatz, M, Filla, Alessandro, Brice, A, Stevanin, G, Santorelli, F. M., Di Fabio, R, Della Giustina, E, Other departments
Jazyk: angličtina
Rok vydání: 2009
Předmět:
Male
ARHSP
DNA Mutational Analysis
medicine.disease_cause
Mutation screening
SPG11
TCC
0302 clinical medicine
Gene Frequency
Genotype
Gene duplication
Missense mutation
Genetics (clinical)
Genetics
0303 health sciences
Mutation
education.field_of_study
medicine.diagnostic_test
mutation screening
Middle Aged
Pedigree
3. Good health
Morocco
Female
Settore MED/26 - Neurologia
Brazil
Adult
Adolescent
ARHSP
TCC
SPG11
mutation screening
Population
Genes
Recessive
Biology
Young Adult
03 medical and health sciences
medicine
Humans
Genetic Testing
education
Allele frequency
030304 developmental biology
Genetic testing
Family Health
Base Sequence
Portugal
Spastic Paraplegia
Hereditary
MUTAÇÃO GENÉTICA
Haplotype
Proteins
Haplotypes
Algeria
Agenesis of Corpus Callosum
Gene Deletion
030217 neurology & neurosurgery
Zdroj: Human Mutation, 30(3), E500-E519. Wiley-Liss Inc.
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Denora, P S, Schlesinger, D, Casali, C, Kok, F, Tessa, A, Boukhris, A, Azzedine, H, Dotti, M T, Bruno, C, Truchetto, J, Biancheri, R, Fedirko, E, Di Rocco, M, Bueno, C, Malandrini, A, Battini, R, Sickl, E, de Leva, M F, Boespflug-Tanguy, O, Silvestri, G, Simonati, A, Said, E, Ferbert, A, Criscuolo, C, Heinimann, K, Modoni, A, Weber, P, Palmeri, S, Plasilova, M, Pauri, F, Cassandrini, D, Battisti, C, Pini, A, Tosetti, M, Hauser, E, Masciullo, M, Di Fabio, R, Piccolo, F, Denis, E, Cioni, G, Massa, R, la Giustina, E, Calabrese, O, Melone, M A B, De Michele, G, Federico, A, Bertini, E, Durr, A, Brockmann, K, van der Knaap, M S, Zatz, M, Filla, A, Brice, A, Stevanin, G & Santorelli, F M 2009, ' Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion ', Human Mutation, vol. 30, no. 3, pp. E500-E519 . https://doi.org/10.1002/humu.20945
Human mutation, 30(3), E500-E519. Wiley-Liss Inc.
ISSN: 1059-7794
DOI: 10.1002/humu.20945
Popis: 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.
Databáze: OpenAIRE
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