Literature DB >> 28580215

A novel PGK1 mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria.

Shigeto Matsumaru1, Hirokazu Oguni1, Hiromi Ogura2, Keiko Shimojima3, Satoru Nagata1, Hitoshi Kanno2, Toshiyuki Yamamoto3.   

Abstract

Phosphoglycerate kinase (PGK) deficiency affects three different organs: red blood cells (RBC), the central nervous system, and muscles. Next-generation sequencing identified a hemizygous PGK1 mutation (p.V217I) in a 16-year-old Japanese male patient presenting with intellectual disability and episodes of muscle weakness of unknown etiology. Enzymatic analysis demonstrated slightly lower RBC-PGK activity and compensatory increases of other glycolysis enzymes. This is the first PGK1 mutation found through next-generation sequencing.

Entities:  

Keywords:  PGK deficiency; Phosphoglycerate kinase 1 gene (PGK1); intellectual disability; muscle involvement; novel mutation

Year:  2017        PMID： 28580215      PMCID： PMC5451746          DOI： 10.5582/irdr.2017.01020

Source DB:  PubMed          Journal:  Intractable Rare Dis Res        ISSN： 2186-3644


  31 in total

1.  Phosphoglycerate kinase deficiency: an adult myopathic form with a novel mutation.

Authors:  T Hamano; T Mutoh; H Sugie; H Koga; M Kuriyama
Journal:  Neurology       Date:  2000-03-14       Impact factor: 9.910

2.  A single amino acid substitution (157 Gly----Val) in a phosphoglycerate kinase variant (PGK Shizuoka) associated with chronic hemolysis and myoglobinuria.

Authors:  H Fujii; H Kanno; A Hirono; T Shiomura; S Miwa
Journal:  Blood       Date:  1992-03-15       Impact factor: 22.113

3.  Molecular defect of a phosphoglycerate kinase variant (PGK-Matsue) associated with hemolytic anemia: Leu----Pro substitution caused by T/A----C/G transition in exon 3.

Authors:  M Maeda; A Yoshida
Journal:  Blood       Date:  1991-03-15       Impact factor: 22.113

Review 4.  PGK deficiency.

Authors:  Ernest Beutler
Journal:  Br J Haematol       Date:  2007-01       Impact factor: 6.998

5.  Two new phosphoglycerate kinase mutations associated with chronic haemolytic anaemia and neurological dysfunction in two patients from Spain.

Authors:  Núria Noel; Jonathan M Flanagan; John Flanagan; Maria Jose Ramirez Bajo; Susana G Kalko; María del Mar Mañú; José Luis Garcia Fuster; Pablo Perez de la Ossa; Josep Carreras; Ernest Beutler; Joan-Lluís Vives Corrons
Journal:  Br J Haematol       Date:  2006-02       Impact factor: 6.998

6.  Intronic mutation in the PGK1 gene may cause recurrent myoglobinuria by aberrant splicing.

Authors:  Kentaro Shirakawa; Yoshitomo Takahashi; Hiroaki Miyajima
Journal:  Neurology       Date:  2006-03-28       Impact factor: 9.910

7.  Myopathy and parkinsonism in phosphoglycerate kinase deficiency.

Authors:  Evangelia Sotiriou; Paul Greene; Sindu Krishna; Michio Hirano; Salvatore DiMauro
Journal:  Muscle Nerve       Date:  2010-05       Impact factor: 3.217

8.  The identification of a recurrent phosphoglycerate kinase mutation associated with chronic haemolytic anaemia and neurological dysfunction in a family from USA.

Authors:  Jonathan M Flanagan; Melissa Rhodes; Meredith Wilson; Ernest Beutler
Journal:  Br J Haematol       Date:  2006-06-01       Impact factor: 6.998

9.  Altered expression of PGK1 in a family with phosphoglycerate kinase deficiency.

Authors:  Eva K Svaasand; Jan Aasly; Veslemøy Malm Landsem; Helge Klungland
Journal:  Muscle Nerve       Date:  2007-11       Impact factor: 3.217

Review 10.  A novel missense mutation (1060G --> C) in the phosphoglycerate kinase gene in a Japanese boy with chronic haemolytic anaemia, developmental delay and rhabdomyolysis.

Authors:  Akira Morimoto; Ikuyo Ueda; Yoshiaki Hirashima; Yasuko Sawai; Tomohiro Usuku; Gen Kano; Kikuko Kuriyama; Shinjiro Todo; Tohru Sugimoto; Hitoshi Kanno; Hisaichi Fujii; Shinsaku Imashuku
Journal:  Br J Haematol       Date:  2003-09       Impact factor: 6.998
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  5 in total

1.  Cerebroventricular Injection of Pgk1 Attenuates MPTP-Induced Neuronal Toxicity in Dopaminergic Cells in Zebrafish Brain in a Glycolysis-Independent Manner.

Authors:  Cheng-Yung Lin; Hsiang-Chien Tseng; Yu-Rong Chu; Chia-Lun Wu; Po-Hsiang Zhang; Huai-Jen Tsai
Journal:  Int J Mol Sci       Date:  2022-04-08       Impact factor: 6.208

2.  Extracellular Pgk1 enhances neurite outgrowth of motoneurons through Nogo66/NgR-independent targeting of NogoA.

Authors:  Cheng Yung Lin; Chia Lun Wu; Kok Zhi Lee; You Jei Chen; Po Hsiang Zhang; Chia Yu Chang; Horng Jyh Harn; Shinn Zong Lin; Huai Jen Tsai
Journal:  Elife       Date:  2019-07-30       Impact factor: 8.140

3.  Acute recurrent rhabdomyolysis in a Chinese boy associated with a novel compound heterozygous LPIN1 variant: a case report.

Authors:  Ke Tong; Geng-Sheng Yu
Journal:  BMC Neurol       Date:  2021-01-29       Impact factor: 2.474

Review 4.  Metabolic Features of Brain Function with Relevance to Clinical Features of Alzheimer and Parkinson Diseases.

Authors:  David Allan Butterfield; Maria Favia; Iolanda Spera; Annalisa Campanella; Martina Lanza; Alessandra Castegna
Journal:  Molecules       Date:  2022-01-30       Impact factor: 4.411

5.  A Novel Missense Variant Associated with A Splicing Defect in A Myopathic Form of PGK1 Deficiency in The Spanish Population.

Authors:  Virginia Garcia-Solaesa; Pablo Serrano-Lorenzo; Maria Antonia Ramos-Arroyo; Alberto Blázquez; Inmaculada Pagola-Lorz; Mercè Artigas-López; Joaquín Arenas; Miguel A Martín; Ivonne Jericó-Pascual
Journal:  Genes (Basel)       Date:  2019-10-10       Impact factor: 4.096
  5 in total

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