Experts and Doctors on frameshift mutation in Brazil
Topic: frameshift mutation
Franco De Carvalho R, Arruda V, Saad S, Costa F. Detection of somatic mutations of the PIG-A gene in Brazilian patients with paroxysmal nocturnal hemoglobinuria. Braz J Med Biol Res. 2001;34:763-6 pubmed
..This study represents the first description of mutations in the PIG-A gene in a Brazilian population. ..
Alves L, Perez A, Alonso L, Otto P, Mingroni Netto R. Novel frameshift variant in gene SALL4 causing Okihiro syndrome. Eur J Med Genet. 2016;59:80-5 pubmed publisher
Moreira E, Vainzof M, Marie S, Nigro V, Zatz M, Passos Bueno M. A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies. J Med Genet. 1998;35:951-3 pubmed
..Interestingly, this new mutation is also associated with a severe clinical course. In addition, our results suggest that this form of severe AR LGMD is not very rare in our population. ..
Basseres D, Duarte A, Hassoun H, Costa F, Saad S. beta-Spectrin S(ta) Bárbara: a novel frameshift mutation in hereditary spherocytosis associated with detectable levels of mRNA and a germ cell line mosaicism. Br J Haematol. 2001;115:347-53 pubmed
..This mutation seems to be confined to the germ cell lineage of the patient's mother and must present a mosaic pattern in these cells as the patient also has unaffected siblings. ..
Basseres D, Tavares A, Costa F, Saad S. beta-Spectrin São PauloII, a novel frameshift mutation of the beta-spectrin gene associated with hereditary spherocytosis and instability of the mutant mRNA. Braz J Med Biol Res. 2002;35:921-5 pubmed
..On the other hand, beta-spectrin São PauloII protein was absent in the red cell membrane, leading to spectrin deficiency, HS and the presence of acanthocytes...
Naves L, Daly A, Vanbellinghen J, Casulari L, Spilioti C, Magalhães A, et al
. Variable pathological and clinical features of a large Brazilian family harboring a mutation in the aryl hydrocarbon receptor-interacting protein gene. Eur J Endocrinol. 2007;157:383-91 pubmed
..3%, while clinical/hormonal features were variable. The features noted in AIP-mutation carriers in this kindred suggest that clinical characteristics of such carriers may extend beyond pituitary tumors. ..