11 documents found, page 1 of 2

Case Report: Mutation in NPPA Gene As a Cause of Fibrotic Atrial Myopathy

Early-onset atrial fibrillation (AF) can be the manifestation of a genetic atrial myopathy. However, specific genetic identification of a mutation causing atrial fibrosis is rare. We report a case of a young patient with an asymptomatic AF, diagnosed during a routine examination. The cardiac MRI revealed extensive atrial fibrosis and the electrophysiology study showed extensive areas of low voltage. The genetic...

TANGO2 Deficiency Disorder: Two Cases of Developmental Delay Preceding Metaboli...

Background: TANGO2 deficiency disorder is a rare genetic disease caused by biallelic defects in TANGO2 gene. Methods: We report the clinical phenotype of two children with TANGO2 deficiency disorder. Results: Patient 1 is a female child presenting with developmental delay and microcephaly during the second year of life, who evolved with severe cognitive impairment, facial dysmorphisms, spastic paraparesis, and ...

Ectodermal Dysplasias

Ectodermal dysplasias are a heterogeneous group of rare inherited disorders. Molecular findings and clarification of cell sig naling processes and ectodermal-mesenchyme interaction enabled the development of a clinical-functional model, which in turn helps to explain clinical signs, with variability in severity, associated non-ectodermal abnormalities and overlap seen in many patients. We herein review the curr...

Targeted Next-Generation Sequencing Study in Familial ALS-FTD Portuguese Patien...

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with clinical and etiological heterogeneity and a complex genetic contribution. Clinical, neuropathological, and genetic evidence revealed that ALS and frontotemporal dementia (FTD) are in part of a single disease continuum. Genetic causes have been identified in sporadic (SALS) and familial patients (FALS) and the recurrent genetic factor under...

The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmen...

Microdeletions at 1q43-q44 have been described as resulting in a clinically recognizable phenotype of intellectual disability (ID), facial dysmorphisms and microcephaly (MIC). In contrast, the reciprocal microduplications of 1q43-q44 region have been less frequently reported and patients showed a variable phenotype, including macrocephaly. Reports of a large number of patients with copy number variations involv...

Genomic imbalances defining novel intellectual disability associated loci

Background: High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was to identify novel genetic causes of neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), in a...

A Known Pathogenic Variant in the Essential Mitochondrial Translation Gene RMND...

Hyperprolinemia as a Clue in the Diagnosis of a Patient with Psychiatric Manife...

Lately, microdeletions of the 22q region, responsible for DiGeorge syndrome or velocardiofacial syndrome, have been increasingly related to neuropsychiatric disorders including schizophrenia and bipolar disorder. These manifestations seem to be related to certain genes located in the hemideleted region such as the proline dehydrogenase (PRODH) and the catechol-o-methyltransferase (COMT) genes. We describe a tee...

Acroparestesias, Diarreia e Dor Abdominal Recorrente – a Importância do “Awaren...

Introdução: A doença de Anderson-Fabry é uma doença hereditária ligada ao cromossoma X causada pela deficiência da enzima lisossomal alfa-galactosidase com acumulação de globotriaosilceramida e comprometimento multissistémico progressivo. No sexo masculino, manifesta-se geralmente na infância e adolescência com acroparestesias, angioqueratomas e sintomas gastrointestinais, evoluindo na idade adulta precoce com ...

Cryptosporidium – de onde terá vindo?

Resumo O Cryptosporidium descrito, pela primeira vez em 1976, como causador de doença no Homem assume, actualmente, particular importância como uma zoonose emergente, responsável por epidemias de diarreia secundárias à ingestão de água contaminada e como causador de diarreia aguda auto-limitada em crianças imunocompetentes.