Clinical outcome and genotype analysis of four Chinese children with pyruvate kinase deficiency

ConclusionCompound heterozygous or homozygous mutations in the coding region of PKLR gene are the causes of PKD in these four Chinese children. The second-generation sequencing technology is an effective means to diagnose PKD. The mutations of c.457-c.462delATCGCC, c.1297T>C, c.1096C>T and Exon4-10del of PKLR reported in this article have not been included in the Thousand Genome Database, dbSNP(v138) and ExAC Database. The PKLR gene mutations found in these children with PKD can provide references for further research of the genetic characteristics of PKD and subsequent gene therapy.

Source: Molecular Genetics & Genomic Medicine - July 19, 2023 Category: Genetics & Stem Cells Authors: Fei Xie, Lu Gan, Lei Lei, Tengguang Cai, Yu Gao, Xiaoying Liu, Bin Cai, Lin Zhou Tags: ORIGINAL ARTICLE Source Type: research