scholarly journals Alu element insertion inPKLRgene as a novel cause of pyruvate kinase deficiency in Middle Eastern patients

2018 ◽  
Vol 39 (3) ◽  
pp. 389-393 ◽  
Author(s):  
Harry Lesmana ◽  
Lisa Dyer ◽  
Xia Li ◽  
James Denton ◽  
Jenna Griffiths ◽  
...  
Keyword(s):  
Pyruvate Kinase ◽  
Middle Eastern ◽  
Pyruvate Kinase Deficiency ◽  
Element Insertion ◽  
Alu Element

scholarly journals A Sri Lankan girl with a new genetic variant in the PKLR gene causing pyruvate kinase deficiency: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Ahalyaa Sivashangar ◽  
Lallindra Gooneratne ◽  
Barnaby Clark ◽  
David Rees ◽  
Saroj Jayasinghe ◽  
...  
Keyword(s):  
Case Report ◽  
Pyruvate Kinase ◽  
Genetic Variant ◽  
Asian Population ◽  
Pathogenic Variant ◽  
Sri Lankan ◽  
Recessive Trait ◽  
Case Presentation ◽  
Pyruvate Kinase Deficiency ◽  
Hematological Disorders

Abstract Background Erythrocyte pyruvate kinase is expressed under the control of the PKLR gene located on chromosome 1q21. Pyruvate kinase catalyzes the final steps of the glycolytic pathway and creates 50% of the red cell total adenosine triphosphate. Pyruvate kinase deficiency is the commonest glycolytic defect causing congenital non-spherocytic hemolytic anemia inherited in an autosomal recessive trait in which homozygotes and compound heterozygotes are common. Over 200 mutations have been described in patients with pyruvate kinase deficiency. This case report identifies a new pathogenic variant in PKLR gene detected in a patient with severe pyruvate kinase deficiency. Case presentation A Sri Lankan Sinhalese girl who developed neonatal anemia and jaundice within 24 hours of birth with mild hepatomegaly. She was from a nonconsanguineous marriage and had two siblings who had no hematological disorders. She had repeated admissions due to similar illnesses and at the age of 8 years was found to have pyruvate kinase deficiency associated with a novel homozygous pathogenic variant c.507+1delG in the PKLR gene. Conclusions A novel genetic variant in PKLR gene, consistent with pyruvate kinase deficiency, was detected in a Sri Lankan girl. This genetic variant may be specific to the Asian population and requires further studies.

Six novel variants in the PKLR gene associated with pyruvate kinase deficiency in Argentinian patients

2021 ◽  
Author(s):  
Berenice Milanesio ◽  
Carolina Pepe ◽  
Lucas A. Defelipe ◽  
Silvia Eandi Eberle ◽  
Vanesa Avalos Gomez ◽  
...  
Keyword(s):  
Pyruvate Kinase ◽  
Pyruvate Kinase Deficiency ◽  
Novel Variants

scholarly journals Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN

2021 ◽  
Vol 10 (11) ◽  
pp. 2265
Author(s):  
Kei Mizobuchi ◽  
Takaaki Hayashi ◽  
Noriko Oishi ◽  
Daiki Kubota ◽  
Shuhei Kameya ◽  
...  
Keyword(s):  
Age At Onset ◽  
Japanese Patients ◽  
Clinical Findings ◽  
Cone Dystrophy ◽  
Element Insertion ◽  
Retinal Dystrophies ◽  
Whole Exome ◽  
Novel Variants ◽  
Alu Element ◽  
Frequent Variant

Background: Little is known about genotype–phenotype correlations of RP1-associated retinal dystrophies in the Japanese population. We aimed to investigate the genetic spectrum of RP1 variants and provide a detailed description of the clinical findings in Japanese patients. Methods: In total, 607 patients with inherited retinal diseases were examined using whole-exome/whole-genome sequencing (WES/WGS). PCR-based screening for an Alu element insertion (c.4052_4053ins328/p.Tyr1352AlafsTer9) was performed in 18 patients with autosomal-recessive (AR)-retinitis pigmentosa (RP) or AR-cone dystrophy (COD)/cone-rod dystrophy (CORD), including seven patients with heterozygous RP1 variants identified by WES/WGS analysis, and 11 early onset AR-RP patients, in whom no pathogenic variant was identified. We clinically examined 25 patients (23 families) with pathogenic RP1 variants, including five patients (five families) with autosomal-dominant (AD)-RP, 13 patients (11 families) with AR-RP, and seven patients (seven families) with AR-COD/CORD. Results: We identified 18 pathogenic RP1 variants, including seven novel variants. Interestingly, the Alu element insertion was the most frequent variant (32.0%, 16/50 alleles). The clinical findings revealed that the age at onset and disease progression occurred significantly earlier and faster in AR-RP patients compared to AD-RP or AR-COD/CORD patients. Conclusions: Our results suggest a genotype–phenotype correlation between variant types/locations and phenotypes (AD-RP, AR-RP, and AR-COD/CORD), and the Alu element insertion was the most major variant in Japanese patients with RP1-associated retinal dystrophies.

IRON OVERLOAD IN CONGENITAL ERYTHROCYTE PYRUVATE KINASE DEFICIENCY

1980 ◽  
Vol 1 (11) ◽  
pp. 531-532 ◽  
Author(s):  
H. H. Salem ◽  
M. B. Van Der Weyden ◽  
B. G. Firkin
Keyword(s):  
Iron Overload ◽  
Pyruvate Kinase ◽  
Pyruvate Kinase Deficiency

Improving the laboratory diagnosis of pyruvate kinase deficiency

2021 ◽  
Author(s):  
Claire Laas ◽  
Christopher Lambert ◽  
Tania Senior McKenzie ◽  
Ewart Sheldon ◽  
Philip Davidson ◽  
...  
Keyword(s):  
Pyruvate Kinase ◽  
Laboratory Diagnosis ◽  
Pyruvate Kinase Deficiency

scholarly journals Clinically Relevant Gene Editing in Hematopoietic Stem Cells for the Treatment of Pyruvate Kinase Deficiency

2021 ◽  
Author(s):  
Sara Fañanas-Baquero ◽  
Oscar Quintana-Bustamante ◽  
Daniel P. Dever ◽  
Omaira Alberquilla ◽  
Rebeca Sanchez ◽  
...  
Keyword(s):  
Stem Cells ◽  
Hematopoietic Stem Cells ◽  
Pyruvate Kinase ◽  
Gene Editing ◽  
Hematopoietic Stem ◽  
Pyruvate Kinase Deficiency ◽  
Relevant Gene

On the molecular basis of pyruvate kinase deficiency II. Role of thiol groups in pyruvate kinase from pyruvate kinase-deficient patients

1974 ◽  
Vol 334 (2) ◽  
pp. 361-367 ◽  
Author(s):  
Th.J.C. Van Berkel ◽  
G.E.J. Staal ◽  
J.F. Koster ◽  
J.G. Nyessen ◽  
L. van Milligen-Boersma
Keyword(s):  
Pyruvate Kinase ◽  
Molecular Basis ◽  
Thiol Groups ◽  
Pyruvate Kinase Deficiency

On the molecular basis of pyruvate kinase deficiency

1974 ◽  
Vol 370 (2) ◽  
pp. 601-604 ◽  
Author(s):  
K.G. Blume ◽  
H. Arnold ◽  
G.W. Löhr ◽  
G. Scholz
Keyword(s):  
Pyruvate Kinase ◽  
Molecular Basis ◽  
Pyruvate Kinase Deficiency
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