Mutation in the GCH1 gene with dopa-responsive dystonia and phenotypic variability

Elsa Krim1, Jerome Aupy1, Fabienne Clot1

  • 1Centre Hospitalier de Pau (E.K., M.B.), Service de Neurologie; Département de Neurosciences Cliniques (J.A., P.B., D.G.), Centre Hospitalier Universitaire de Bordeaux; Université de Bordeaux (J.A., P.B., D.G.), Institut des Maladies Neurodégénératives, CNRS UMR 5293; and AP-HP (F.C.), Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Unité Fonctionnelle de Neurogénétique Moléculaire et Cellulaire, Département de Génétique et Cytogénétique, Paris, France.

Neurology. Genetics
|March 27, 2018
PubMed
Abstract

No abstract available in PubMed .

Related Concept Videos

Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
64.6K
Mutations01:39

Mutations

Overview
94.6K
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
44.7K
Viral Mutations00:36

Viral Mutations

A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
40.0K
Gene Flow02:39

Gene Flow

Gene flow is the transfer of genes among populations, resulting from either the dispersal of gametes or from the migration of individuals.
38.1K
Gene Evolution - Fast or Slow?02:05

Gene Evolution - Fast or Slow?

The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
In contrast, regions which code...
8.2K