PERSONAL DE APOYO
MANCINI VILLAGRA Ulises Maximiliano
artículos
Título:
Mutational analysis of the GAP-related domain of the neurofibromatosis type 1 gene in Brazilian NF1 patients
Autor/es:
ALESSANDRA B. TROVÓ; ENY M. GOLONI-BERTOLLO; ULISES M. MANCINI; PAULA RAHAL; WALTER F. DE AZEVEDO JR; ELOIZA H. TAJARA
Revista:
GENETICS AND MOLECULAR BIOLOGY
Editorial:
SOC BRASIL GENETICA
Referencias:
Lugar: Sao Paulo; Año: 2004 vol. 27 p. 326 - 330
ISSN:
1415-4757
Resumen:
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder caused by mutations in the NF1 gene. In the present study, a total of 55 unrelated NF1 patients were screened for mutations in the GAP-related domain/GRD (exons 20-27a) by single-strand conformation polymorphism (SSCP). Four different mutations were identified and, taken together, they comprise one nonsense substitution (Q1189X), one deletion (3525-3526delAA), one missense substitution (E1356G) and one mutation in the splice acceptor site (c.4111-1G>A). One novel polymorphism (c.4514+11C>G) and other three putative polymorphisms were also found (c.3315-27G>A, V1146I and V1317A). Genotype-phenotype correlations were investigated, but no particular association was detected.
