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Browsing Genética by Author "Almeida, S"
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- Functional Study of DAND5 Variant in Patients with Congenital Heart Disease and Laterality DefectsPublication . Cristo, F; Inácio, JM; Almeida, S; Mendes, P; Martins, DS; Maio, J; Anjos, R; Belo, JAPerturbations on the Left-Right axis establishment lead to laterality defects, with frequently associated Congenital Heart Diseases (CHDs). Indeed, in the last decade, it has been reported that the etiology of isolated cases of CHDs or cases of laterality defects with associated CHDs is linked with variants of genes involved in the Nodal signaling pathway.
- A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal DysplasiaPublication . Hu, Y; Chen, I; Almeida, S; Tiziani, V; Amaral, C; Gowrishankar, K; Passos-Bueno, MR; Reichenberger, ECraniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. CMD can be inherited in an autosomal dominant (AD) trait or occur after de novo mutations in the pyrophosphate transporter ANKH. Although the autosomal recessive (AR)form of CMD had been mapped to 6q21-22 the mutation has been elusive. In this study, we performed whole-exome sequencing for one subject with AR CMD and identified a novel missense mutation (c.716G>A, p.Arg239Gln) in the C-terminus of the gap junction protein alpha-1 (GJA1) coding for connexin 43 (Cx43). We confirmed this mutation in 6 individuals from 3 additional families. The homozygous mutation cosegregated only with affected family members. Connexin 43 is a major component of gap junctions in osteoblasts, osteocytes, osteoclasts and chondrocytes. Gap junctions are responsible for the diffusion of low molecular weight molecules between cells. Mutations in Cx43 cause several dominant and recessive disorders involving developmental abnormalities of bone such as dominant and recessive oculodentodigital dysplasia (ODDD; MIM #164200, 257850) and isolated syndactyly type III (MIM #186100), the characteristic digital anomaly in ODDD. However, characteristic ocular and dental features of ODDD as well as syndactyly are absent in patients with the recessive Arg239Gln Cx43 mutation. Bone remodeling mechanisms disrupted by this novel Cx43 mutation remain to be elucidated.
- O Papel do Rastreio Auditivo Neonatal na Reabilitação Auditiva InfantilPublication . Araújo-Martins, J; Correia, I; Ferreira, R; Santos, PB; Gonçalves, R; Almeida, S; Nunes, L; Monteiro, LObjectivos: Determinar a influência da implementação do rastreio auditivo neonatal universal na referenciação de crianças com hipoacúsia a uma consulta de reabilitação auditiva. Métodos: Contexto – consulta de reabilitação auditiva num centro de referenciação terciário em Lisboa; Desenho do estudo – estudo de coorte retrospectivo baseado nos dados de processos clínicos de crianças com surdez. População – todos os processos de crianças nascidas a partir de 1998 (437 no total) foram analisados, resultando na selecção de 322 crianças que cumpriam os critérios de inclusão. Resultados: A idade média de referenciação à consulta tem vindo a diminuir de 55 meses (1998-2000) para 12 meses (2007-2009). Em 3/4 dos doentes o motivo de referenciação é hipoacúsia ou alterações nos programas de rastreio auditivo neonatal. Conclusão: O rastreio auditivo neonatal tem permitido iniciara reabilitação auditiva de crianças com hipoacúsia mais cedo. É importante manter este programa a funcionar para garantir a reabilitação precoce de crianças com perda auditiva.
- Sickle cell anemia - Nitric oxide related genetic modifiers of hematological and biochemical parametersPublication . Aguiar, L; Matos, A; Gil, A; Afonso, C; Almeida, S; Braga, L; Lavinha, J; Kjollerstrom, P; Faustino, P; Bicho, M; Inácio, ASickle cell anemia (SCA) is an inherited blood disorder. SCA patients present clinical and hematologic variability that cannot be only explained by the single mutation in the beta-globin gene. Others genetic modifiers and environmental effects are important for the clinical phenotype. SCA patients present arginine deficiency that contributes to a lower nitric oxide (NO) bioactivity.