Browsing by Author "Correia, C."
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- Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studiesPublication . Jorge, P.; Garcia, E.; Gonçalves, A.; Marques, I.; Maia, N.; Rodrigues, B.; Santos, H.; Fonseca, J.; Soares, G.; Correia, C.; Reis-Lima, M.; Cirigliano, V.; Santos, R.BACKGROUND: We describe a female infant with Fragile-X syndrome, with a fully expanded FMR1 allele and preferential inactivation of the homologous X-chromosome carrying a de novo deletion. This unusual and rare case demonstrates the importance of a detailed genomic approach, the absence of which could be misguiding, and calls for reflection on the current clinical and diagnostic workup for developmental disabilities. CASE PRESENTATION: We present a female infant, referred for genetic testing due to psychomotor developmental delay without specific dysmorphic features or relevant family history. FMR1 mutation screening revealed a methylated full mutation and a normal but inactive FMR1 allele, which led to further investigation. Complete skewing of X-chromosome inactivation towards the paternally-inherited normal-sized FMR1 allele was found. No pathogenic variants were identified in the XIST promoter. Microarray analysis revealed a 439 kb deletion at Xq28, in a region known to be associated with extreme skewing of X-chromosome inactivation. CONCLUSIONS: Overall results enable us to conclude that the developmental delay is the cumulative result of a methylated FMR1 full mutation on the active X-chromosome and the inactivation of the other homologue carrying the de novo 439 kb deletion. Our findings should be taken into consideration in future guidelines for the diagnostic workup on the diagnosis of intellectual disabilities, particularly in female infant cases.
- Congenital Heart Disease At Maternidade Júlio DinisPublication . Nascimento, J.; Correia, C.; Guedes, A.; Proença, E.; Loureiro, M.; Alvares, S.
- A tríade clássica de uma doença ainda actualPublication . Sousa, C.; Guardiano, M.; Correia, C.; Rego, C.; Ferreira, F.A doença de Kala-azar é uma patologia actualmente rara que regista, na ausência de tratamento adequado, uma elevada taxa de mortalidade. Apresenta-se um caso clínico de doença de Kala-azar numa lactente de 10 meses com a tríade clínica clássica de febre, palidez e esplenomegalia. A propósito deste caso, os autores reforçam a importância do diagnóstico de suspeição, apresentam as opções terapêuticas disponíveis e abordam aspectos epidemiológicos da doença. ABSTRACT Kala-azar is nowadays an uncommon disease that presents a high mortality rate in the absence of adequate treatment. The authors present the case of a ten months infant with the common clinical fi ndings of fever, pallor and splenomegaly. The importance of the diagnosis suspicion is reinforced and the treatment choices and epidemiologic aspects of the disease are discussed.
- Unexpected pattern of beta-globin mutations in beta-thalassaemia patients from northern PortugalPublication . Cabeda, J.; Correia, C.; Estevinho, A.; Simões, C.; Amorim, M.; Pinho, L.; Justiça, B.We characterized the genetic nature of beta-thalassaemia in northern Portugal. Of the 164 patients studied three were beta-thalassaemia major cases (one IVS-1-6/beta degrees 39 and two homozygous IVS-1-110). The analysis of the frequency of each mutation in the families revealed that the codon 6(-A) mutation was unexpectedly frequent (40%) and associated with the beta-globin haplotype E, and not with the usual European and North African CD6(-A) haplotypes. In contrast, the frequency of IVS-1-6 (8%) and beta degrees 39 (19%) was found to be lower than in the rest of the country. The frequency of all other mutations was similar to previous reports for central/southern Portugal. Six families carried none of the most frequent mutations in the Mediterranean area. These families were studied by gene sequencing, revealing that three families carried a previously described mutation (CD16 G --> A). The remaining families carried previously unidentified mutations: one showed an 86 bp insertion in exon 2 (named HGSA) and two showed a deletion of a cytidine in codon 11 (CD11(-C)). The results, showing a high frequency (82%) of beta degrees mutations, strongly indicates that genetic counselling should be intensified as a means of preventing the spread of the severe mutations found.