48 documents found, page 1 of 5
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data ...
Melo, Mafalda; Ribeiro, Mariana; Silva, Paulo Filipe; Valente, Susana; Alves, Filipe; Venâncio, Margarida; Sequeiros, Jorge; Freixo, João ParenteThe application of whole-exome sequencing (WES) for diagnostic purposes has the potential to unravel secondary findings unrelated with the primary reason of testing. Some of those might be of high clinical utility and comprise disease-causing variants in genes, related to life-threatening and clinically actionable diseases. Clarifying the allelic frequencies of such variants in specific populations is a crucial...
Missense variant in TTBK2 kinase domain causes loss of function and impaired pr...
Felício, Daniela; Osório, Hugo; Pereira, Conceição; Brandão, Ana Filipa; Freixo, João Parente; Carvalho, Inês; Sousa, Ana PaulaTau tubulin kinase 2 (TTBK2) is a ubiquitous serine-threonine protein kinase implicated in diverse cellular processes, including microtubule regulation, ciliogenesis, synaptic signaling, and the phosphorylation of key proteins like TDP-43. Despite its relevance, many aspects of TTBK2 function in both physiological and pathological conditions remain poorly understood. Truncating variants in TTBK2 gene cause spin...
Missense Variant in TTBK2 Kinase Domain Causes Loss of Function and Impaired Pr...
Felício, Daniela; Osório, Hugo; Pereira, Conceição; Brandão, Ana Filipa; Freixo, João Parente; Carvalho, Inês; Sousa, Ana PaulaTau tubulin kinase 2 (TTBK2) is a ubiquitous serine-threonine protein kinase implicated in diverse cellular processes, including microtubule regulation, ciliogenesis, synaptic signaling, and the phosphorylation of key proteins like TDP-43. Despite its relevance, many aspects of TTBK2 function in both physiological and pathological conditions remain poorly understood. Truncating variants in TTBK2 gene cause spin...
Living with Transthyretin-Related Familial Amyloid Polyneuropathy—TTR-FAP: Gene...
Oliveira, Carla Roma; Sousa, Liliana; Sá Couto, Pedro; Sequeiros, Jorge; Mendes, ÁlvaroGenerativity is a main adulthood developmental task, centred on the concern to contribute for the wellbeing of younger generations, and has been associated with improved health and wellbeing. Generativity, nevertheless, has not been explored in persons with rare late-onset neurological diseases, such as transthyretin-related familial amyloid polyneuropathy (TTR-FAP). This study aims at examining generativity in...
Rare disease associations in Portugal: an importante source of psychosocial sup...
Costa, Catarina; Alonso, Isabel; Sequeiros, Jorge; Paneque, MilenaThis study aimed to characterize the development of Portuguese patient associations, mostly on rare diseases, as a relevant source of psychosocial support for patients and their families. Participants represented 23 patients’ associations or delegations, with which interviews were carried out. Recordings were transcribed and analyzed using the thematic analysis method. Three conceptual categories emerged in the...
Molecular characterization of Portuguese patients with hereditary cerebellar at...
Santos, Mariana; Damásio, Joana; Carmona, Susana; Neto, João Luís; Dehghani, Nadia; Correia Guedes, Leonor; Barbot, Clara; Barros, José; Brás, JoséHereditary cerebellar ataxia (HCA) comprises a clinical and genetic heterogeneous group of neurodegenerative disorders characterized by incoordination of movement, speech, and unsteady gait. In this study, we performed whole-exome sequencing (WES) in 19 families with HCA and presumed autosomal recessive (AR) inheritance, to identify the causal genes. A phenotypic classification was performed, considering the ma...
Rare occurrence of severe blindness and deafness in Friedreich ataxia: a case r...
Damásio, Joana; Sardoeira, Ana; Araújo, Maria; Carvalho, Isabel; Sequeiros, Jorge; Barros, JoséBackground: Friedreich ataxia is the most frequent hereditary ataxia worldwide. Subclinical visual and auditory involvement has been recognized in these patients, with co-occurrence of severe blindness and deafness being rare. Case report: We describe a patient, homozygous for a 873 GAA expansion in the FXN gene, whose first symptoms appeared by the age of 8. At 22 years-old he developed sensorineural deafness,...
Novel MAG Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular B...
Santos, Mariana; Damásio, Joana; Kun-Rodrigues, Celia; Barbot, Clara; Sequeiros, Jorge; Brás, José; Alonso, Isabel; Guerreiro, RitaHomozygous variants in MAG, encoding myelin-associated glycoprotein (MAG), have been associated with complicated forms of hereditary spastic paraplegia (HSP). MAG is a glycoprotein member of the immunoglobulin superfamily, expressed by myelination cells. In this study, we identified a novel homozygous missense variant in MAG (c.124T>C; p.Cys42Arg) in a Portuguese family with early-onset autosomal recessive cere...
Twenty Years of a Pre-Symptomatic Testing Protocol for Late-Onset Neurological ...
Paneque, Milena; Félix, Joana; Mendes, Álvaro; Lemos, Carolina; Lêdo, Susana; Silva, João; Sequeiros, JorgeIntroduction: The national protocol of genetic counselling and pre-symptomatic testing for late-onset neurological diseases began in Portugal in 1995. Initially, it was accessible only to adults at-risk for Machado-Joseph disease, but was later extended to other hereditary ataxias, to Huntington’s disease and to familial amyloid polyneuropathy caused by Val30Met mutation at the transthyretin gene. The aim of th...
Proposal of a Portuguese Tool for Quality Assessment of Genetic Counselling: a ...
Paneque, Milena; Costa, Catarina; Lemos, Carolina; Alves-Ferreira, Miguel; Sequeiros, Jorge; Lemos, Marina SerraIntroduction: The lack of tools for quality assessment of genetic counselling is recognized in national and international studies. The correlation of quality of healthcare practice with greater satisfaction of patients and affected families is also well established. The present study describes the development and validation of the first Portuguese scale for quality assessment of genetic counselling practice. It...