Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene.

Journal of Pediatric Endocrinology & Metabolism : JPEM
Nadia WaheedHuma Arshad Cheema

Abstract

Background PHKG2-related liver phosphorylase kinase deficiency is inherited in autosomal recessive pattern and is a rare type of liver glycogenosis. We demonstrated the clinical presentation and genetic determinants involved in children with PHKG2- related liver phosphorylase kinase deficiency. Methodology Ten Pakistani children with liver phosphorylase kinase from seven different families, were enrolled over a period of 18 months. All regions of the PHKG2 gene spanning exons and splicing sites were evaluated through targeted exome sequencing. Variants were analyzed using different bioinformatics tools. Novel variants were reconfirmed by direct sequencing. Results Seven different variants were identified in PHKG2 gene including five novel variants: three stop codons (c.226C>T [p.R76*], c.454C>T [p.R152*] and c.958C>T [p.R320*]), one missense variant c.107C>T (p.S36F) and one splice site variant (c.557-3C>G). All five novel variants were predicted to be damaging by in Silico analysis. The variants are being transmitted through recessive pattern of inheritance except one family (two siblings) has compound heterozygotes. Laboratory data revealed elevated transaminases and triglycerides, normal creatinine phosphokinase and uric aci...Continue Reading

References

Aug 22, 2003·Pediatric Research·Barbara BurwinkelManfred W Kilimann
Aug 11, 2007·Molecular Genetics and Metabolism·Nicholas James BeauchampMark Sharrard
Aug 19, 2007·Molecular Genetics and Metabolism·Joni S WinchesterNancy A Rice
Mar 28, 2008·The Korean Journal of Hepatology·Ji Eun Kwon, Young Nyun Park
Aug 18, 2012·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Jing WangVictor Wei Zhang
Dec 12, 2013·European Journal of Pediatrics·Buthainah AlbashMohammed Al-Owain
Jul 30, 2014·Journal of Inherited Metabolic Disease·Laurie M BrownDavid A Weinstein
Oct 1, 2014·Molecular Genetics and Metabolism·Anne RoscherSaadet Mercimek-Mahmutoglu
Jan 24, 2018·Journal of Pediatric Endocrinology & Metabolism : JPEM·Chunyun LiZuocheng Yang

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