A Sri Lankan girl with a new genetic variant in the PKLR gene causing pyruvate kinase deficiency: a case report

摘要

Sanger sequencing results from patient displayed in Mutation Surveyor software. a Genetic sequence where a run of five guanine (G) nucleotides in the reference sequence predicts a single G deletion represented by a black dot (highlighted by red arrow). b Predicted chromatogram that the software creates based on the reference sequence, showing a run of five G (black) peaks in the reference. c Chromatogram from the patient showing a homozygous deletion of one guanine (G) base, highlighted by the red arrow. The canonical splice site is represented by GT, which is at the end of the run of five guanine bases. The homozygous deletion of a G moves the splice site by one base, creating a frameshift in the amino acid coding sequence