| Full text | |
| Author(s): |
Brasil, Amanda Salem
;
Malaquias, Alexsandra C.
;
Wanderley, Luciana Turolla
;
Kim, Chong Ae
;
Krieger, Jose Eduardo
;
Jorge, Alexander A. L.
;
Pereira, Alexandre C.
;
Bertola, Debora Romeo
Total Authors: 8
|
| Document type: | Journal article |
| Source: | Arquivos Brasileiros de Endocrinologia e Metabologia; v. 54, n. 8, p. 6-pg., 2010-11-01. |
| Abstract | |
Noonan syndrome (NS) is an autosomal dominant disorder, with variable phenotypic expression, characterized by short stature, facial dysmorphisms and heart disease. Different genes of the RAS/MAPK signaling pathway are responsible for the syndrome, the most common are: PTPN11, SOS1, RAF1, and KRAS. The objective of this study was to report a patient with Noonan syndrome presenting mutations in two genes of RAS/MAPK pathway in order to establish whether these mutations lead to a more severe expression of the phenotype. We used direct sequencing of the PTPN11, SOS1, RAF1, and KRAS genes. We have identified two described mutations in heterozygosity: p.N308D and p.R552G in the genes PTPN11 and SOS1, respectively. The patient has typical clinical features similar to the ones with NS and mutation in only one gene, even those with the same mutation identified in this patient. A more severe or atypical phenotype was not observed, suggesting that these mutations do not exhibit an additive effect. Arq Bras Endocrinol Metab. 2010,54(8):717-22 (AU) | |