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Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene by Nadia Waheed; Anjum Saeed; Sadaqat Ijaz; Zafar Fayyaz; Muhammad Nadeem Anjum; Yasir Zahoor; Huma Arshad Cheema is a Medicine article available to read on EtoBox.
What is Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene about?
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 triglyc
Who reads Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene?
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- Author
- Nadia Waheed; Anjum Saeed; Sadaqat Ijaz; Zafar Fayyaz; Muhammad Nadeem Anjum; Yasir Zahoor; Huma Arshad Cheema
- Publisher
- Walter de Gruyter GmbH
- Published
- 2020
- Language
- EN
- Field
- Medicine (Health Sciences)