Variant in as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo Mutation.

Mutations in genes have been described in patients with epilepsy, finding a large phenotypic variability, from benign familial epilepsy to epileptic encephalopathy. To explain this variability, it was proposed the existence of dominant modifier alleles at one or more loci that contribute to determine the severity of the epilepsy phenotype. One example of modifier factor may be the gene, as proved in animal models.

Great clinical variability of Nance Horan syndrome due to deleterious mutations in two unrelated Spanish families.

: Nance-Horan syndrome (NHS) is an X-linked rare congenital disorder caused by mutations in the gene. Clinical manifestations include congenital cataracts, facial and dental dysmorphism and, in some cases, intellectual disability. The aim of the present work was to identify the genetic cause of this disease in two unrelated Spanish NHS families and to determine the relative involvement of this gene in the pathogenesis.

New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy.

Nemaline Myopathy (NM) is a rare genetic disorder that encompasses a large spectrum of myopathies characterized by hypotonia and generalized muscle weakness. To date, mutations in thirteen different genes have been associated with NM. The most frequently responsible genes are NEB (50% of cases) and ACTA1 (15-25% of cases).

[The new challenge in oncology: Next-generation sequencing and its application in precision medicine].

Precision Medicine is an emerging approach for the diagnosis, treatment and prognosis of genetic diseases that enables clinicians to more accurately predict which treatment strategy will be optimal in a patient. The aim of Precision Medicine in Oncology is to integrate clinical, histological, and molecular data in order to obtain a deeper knowledge about the biology and genetics of an individual's tumour. Over the last few years, the implementation of new NGS (Next Generation Sequencing) technologies into clinical practice has been essential.