A Novel and a Previously Described Compound Heterozygous PKLR Gene Mutations Causing Pyruvate Kinase Deficiency in a Chinese Child. (1st June 2014)

• Record Type: Journal Article
• Authors: Li, Huimin; Gu, Ping; Yao, Ru-en; Wang, Jian; Fu, Qihua; Wang, Jing
• Is Part Of: Fetal and pediatric pathology. Volume 33:Number 3(2014)
• Page Start: 182
• Page End: 190
• Publication Date: 2014-06-01
• Subjects: Pathology, Molecular -- Periodicals; Pediatrics -- Periodicals; Molecular biology -- Periodicals; Pediatric pathology -- Periodicals; Fetal Diseases -- pathology -- Periodicals; Infant, Newborn, Diseases -- pathology -- Periodicals; Pediatrics -- Periodicals; 618.92007
• DOI: 10.3109/15513815.2014.890260
• Languages: English
• ISSNs: 1551-3815

Abstract

<abstract> <title> <x xml:space="preserve">Abstract</x> </title> <p> <italic>Background</italic>: Pyruvate kinase deficiency (PKD) is one of the most common enzymatic defects in humans and it is an autosomal recessive disorder causing chronic nonspherocytic hemolytic anemia. <italic>Methods</italic>: A two-year-old male baby with severe hemolytic anemia and low level of pyruvate kinase (PK) activity was enrolled in this study. All exons of <italic>PKLR</italic> gene and their flanking sequences were amplified from the patient's genomic DNA using PCR. Bioinformatics software was used to evaluate the functional impacts of the mutations found in this study. <italic>Results</italic>: It was here demonstrated that the boy harbored a previously described mutation (c. 941T&gt;C) in exon 7 and a novel mutation (c. 1183 G&gt;C) in exon 9 of <italic>PKLR</italic> gene. Both mutations led to significant structural alterations and decreased enzymatic activity of PK, as predicted by tool software. <italic>Conclusions</italic>: The compound heterozygous mutations in the <italic>PKLR</italic> gene were the cause of inherited PKD for this patient.</p> </abstract>