In the era of massive sequencing, access to the intensive study of the genome has provided a much deeper understanding of genetic variability, and how this can give rise to complex phenotypes from the combination of several monogenetic diseases in the same individual. It is estimated that in approximately 5% of …
Continue reading «Double trouble. Varias enfermedades genéticas en un mismo indivíduo.»
Mendelian: Autosomal dominant. Autosomal recessive. X-linked. Non-mendelian: Imprinting. Mosaicism. Dynamic mutations (Short tandem repeats).
In X-linked inheritance, it has classically been considered that the transmission pattern occurs from carrier females to affected males, and that therefore, a carrier female would have a 50% probability of conceiving affected males and a 50% probability of conceiving carrier females. However, this assumption is only met in …
Continue reading «Herencia ligada al X con susceptibilidad femenina.»
Limitations of exome sequencing:
The results of a genetic study are not definitive, and in the case of variants of uncertain significance, it is necessary to continue investigations to clarify their meaning.
On the Decipher website, an updated list of all microdeletion and microduplication syndromes can be consulted. More and more microduplication and microdeletion syndromes have been identified over the last few years, with the growing use of aCGH in research and clinical practice. They can be classified based on …
Continue reading «Síndromes de microdelección y microduplicación.»
In our geographical area there are two minority populations that are of interest from a genetic point of view, mainly because they have historically practiced endogamy and show high consanguinity, and because they have experienced genetic bottlenecks that have given rise to the founder effect in some diseases.
The nomenclature of genetic variants is standardized, and rules exist for its use. On the Varnomen website you can find the rules for using genetic nomenclature.
To establish the causality of a genetic variant with respect to a phenotype, sufficient scientific evidence must be obtained. The pathogenicity classification proposed by the ACMG establishes 5 classification categories: Benign, likely benign, variant of uncertain significance, likely pathogenic, and pathogenic. These categories are defined based on the probability that a … exists.
GeneReviews is a resource from the United States National Institutes of Health, which compiles updated and high-quality information on genetic diseases, including examinations that should be performed at diagnosis and the health program recommended for follow-up.
