Table 1

Explaining terminology

DeletionOne or more bps are removed (can also involve larger stretches of DNA; eg, a deletion of exons 48–50 in the DMD gene means a deletion starting in intron 47 and ending in intron 50)
DuplicationOne or more bps are duplicated (can also involve larger stretches of DNA; eg, a duplication of exons 48–50 in the DMD gene means part of intron 47–exon 48–intron 48–exon 49–intron 49–exon 50–part of intron 50 are present twice)
ExonsParts of a gene that are included in the mRNA transcript and translated into protein (see also RNA transcript)
Frame-shiftMutation (of any type) that leads to an altered reading frame, leading to the incorporation of aberrant amino acids and generally leading to premature truncation of translation due to stop codons present in the aberrant frame
Full dystrophin sequencingTechnically this would mean sequencing the complete 2.2 Mb that encompasses the DMD gene. Most often refers to performing mutation analysis for all exons of the DMD gene
Gene analysisPerforming DNA analysis of a specific gene to assess whether there is a mutation
Gene sequencingAssessing the DNA sequence of an entire gene (promoter region, exons and introns and 3′ untranslated region)
Genetic confirmationIdentification of a disease-causing mutation in a gene when it has already been confirmed that the encoded protein is not produced/not functioning properly
Genetic testingPerforming DNA analysis to identify a disease-causing mutation
Genetic variationChange from the reference DNA sequence that does not underlie a genetic disease
IntronsParts of a gene that do not contain protein coding information. Introns are removed from the pre-mRNA during the splicing process (see also RNA transcript)
InversionTwo or more bps are inverted in the DNA
Missense mutationPoint mutation that results in a changed amino acid
Mutation analysisAssessing how a specific mutation in a gene leads to disease
Mutation typeSort of mutation (eg, point mutation, deletion, duplication, translocation, inversion)
MutationChange in the DNA that underlies a genetic disease (usually present in a gene and abolishing or reducing production of a functional protein)
Nonsense mutationPoint mutation that introduces a premature stop codon
Point mutationThe change of one bp into another bp
RNA transcriptSingle-stranded copy of a gene that initially contains exons and introns (pre-messenger RNA). During the splicing process, introns are removed and the exons linked to generate an mRNA that is translated into protein
Small mutationA mutation involving a small number of bps (usually ≤3)
TranslocationPart of a chromosome is moved to another chromosome
Whole-exome analysisSequencing all known exons in the human genome (so all exons of >23 000 genes)
Whole-genome analysisSequencing the complete human genome (3000 Mb)