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Pregled bibliografske jedinice broj: 212086

Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes


Piluso, Giulio; Politano, Luisa; Fanin, M.; Ricci , Enrico; Ventriglia, VM; Belsito, A.; Totaro, A.; Saccone, V.; Topaloglu, H.; Nascimbeni, AC et al.
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes // Journal of medical genetics, 42 (2005), 9; 686-693 doi:10.1136/jmg.2004.028738 (međunarodna recenzija, članak, znanstveni)


CROSBI ID: 212086 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes

Autori
Piluso, Giulio ; Politano, Luisa ; Fanin, M. ; Ricci , Enrico ; Ventriglia, VM ; Belsito, A. ; Totaro, A. ; Saccone, V. ; Topaloglu, H. ; Nascimbeni, AC ; Fulizio, L. ; Broccolini, A. ; Canki-Klain, Nina ; Comi, Lucia ; Nigro, Giovanni ; Angelini, Corrado ; Nigro, Vincenzo

Izvornik
Journal of medical genetics (0022-2593) 42 (2005), 9; 686-693

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
calpain-3 gene ; LGMD2A ; phenotypes

Sažetak
Background:The limb girdle muscular dystrophies (LGMD)are a heterogeneous groupof Mendelian disorders hihlighted by weakness of the pelvic and shoulder girdle muscles. Seventeen autosomal loci have been so far identified and genetic tests arevmandatory to distinguish among the forms. Mutations at the calpain 3 locus (CAPN3) cause LGMD type 2A. Objective:To obtain unbiased information on the consequences of CAPN3 mutations. Patients:530 subjects with different grades of symptoms and 300 controls. Methods:High throughput denaturing HPLC analysis of DNA pools. Results: 141 LGMD2A cases were identified, carrying 82 different CAPN3 mutations (45 novel), along with 18 novel polymorphisms/variants. Females had a more favourable course than males. In 94% of the more severely affected patient group, the defect was also discovered in the second allele. This proves the sensibility of the approach.CAPN3 mutations were found in 35.1% of classical LGMD phenotypes. Mutations were also found in 18.4% of atypical patients and in 12.6% of subjects with high serum creatine kinase levels. Conclusions:A non-invasive and cost effective strategy, based on the high throughput denaturing HPLC analysis of DNA pools, was used to obtain unbiased information on the consequences of CAPN3 mutations in the largest genetic study ever undertaken. This broadens the spectrum of LGMD2A phenotypes and sets the carrier frequency at 1:103.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA


Projekti:
0108052

Ustanove:
Medicinski fakultet, Zagreb

Profili:

Avatar Url Nina Canki-Klain (autor)

Citiraj ovu publikaciju

Piluso, Giulio; Politano, Luisa; Fanin, M.; Ricci , Enrico; Ventriglia, VM; Belsito, A.; Totaro, A.; Saccone, V.; Topaloglu, H.; Nascimbeni, AC et al.
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes // Journal of medical genetics, 42 (2005), 9; 686-693 doi:10.1136/jmg.2004.028738 (međunarodna recenzija, članak, znanstveni)
Piluso, G., Politano, L., Fanin, M., Ricci , E., Ventriglia, V., Belsito, A., Totaro, A., Saccone, V., Topaloglu, H. & Nascimbeni, A. (2005) Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes. Journal of medical genetics, 42 (9), 686-693 doi:10.1136/jmg.2004.028738.
@article{article, year = {2005}, pages = {686-693}, DOI = {10.1136/jmg.2004.028738}, keywords = {calpain-3 gene, LGMD2A, phenotypes}, journal = {Journal of medical genetics}, doi = {10.1136/jmg.2004.028738}, volume = {42}, number = {9}, issn = {0022-2593}, title = {Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes}, keyword = {calpain-3 gene, LGMD2A, phenotypes} }
@article{article, year = {2005}, pages = {686-693}, DOI = {10.1136/jmg.2004.028738}, keywords = {calpain-3 gene, LGMD2A, phenotypes}, journal = {Journal of medical genetics}, doi = {10.1136/jmg.2004.028738}, volume = {42}, number = {9}, issn = {0022-2593}, title = {Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes}, keyword = {calpain-3 gene, LGMD2A, phenotypes} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE


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