Molecular genetic testing enabled the diagnosis of otherwise undiagnosable cases of pyruvate kinase deficiency

Chueh, Hee Won; Kim, Namhee

doi:10.1080/08880018.2021.1950877

Cited by 2 publications

(2 citation statements)

References 14 publications

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“…Mutations in the PKLR gene leading to a total loss or severe reduction of the enzyme activity can lead to hemolysis [ 31 ]. Clinical symptoms arise when an individual inherits homozygous or heterozygous mutations of the PKLR gene from both parents [ 32 ]. Thus far, over 300 PKLR gene mutations have been reported globally and the majority of these are point mutations, followed by insertion–deletion mutations [ 33 ].…”

Section: Discussionmentioning

confidence: 99%

Pyruvate kinase deficiency and PKLR gene mutations: Insights from molecular dynamics simulation analysis

Wang,

Liu,

Liu

et al. 2024

Heliyon

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Section: Discussionmentioning

confidence: 99%

Pyruvate kinase deficiency and PKLR gene mutations: Insights from molecular dynamics simulation analysis

Wang,

Liu,

Liu

et al. 2024

Heliyon

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“…To date, several Korean cases of PK deficiency caused by PKLR mutations have been reported ( 6 , 10 , 11 ). To the best of our knowledge, this is the first to analyze copy number variation (CNV) in a Korean patient with PK deficiency using next-generation sequencing (NGS).…”

Section: Introductionmentioning

confidence: 99%

Case report: Compound heterozygosity in PKLR gene with a large exon deletion and a novel rare p.Gly536Asp variant as a cause of severe pyruvate kinase deficiency

et al. 2022

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Red cell pyruvate kinase (PK) deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia and the most frequent enzyme abnormality of the glycolytic pathway. To the best of our knowledge, this is the first Korean PK deficiency study that analyzes copy number variation (CNV) using next-generation sequencing (NGS). A 7-year-old girl with jaundice was admitted for evaluation of a persistent hemolytic anemia. The proband appeared chronically ill, showing a yellowish skin color, icteric sclera, hepatomegaly, and splenomegaly on physical examination. Sequence variants and CNV generated from NGS data were estimated to determine if there was a potential genetic cause. As a result, compound heterozygosity in the PKLR gene for a large exon deletion between exon 3 and exon 9 accompanied with a novel rare p.Gly536Asp variant located on exon 10 was identified as a cause of severe PK deficiency in the proband. The PK activity of the proband had been measured at the time of day 1, 21, and 28 after receiving transfusion to indirectly assume the effect of the transfused blood, and the results were 100.9%, 73.0%, and 48.5%, compared with average of normal controls, respectively. Our report emphasizes the need to perform complete CNV analysis of NGS data and gene dosage assays such as multiplex ligation-dependent probe amplification to evaluate large deletions or duplications/insertions of the PKLR gene in patients with suspected PK deficiency.

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Molecular genetic testing enabled the diagnosis of otherwise undiagnosable cases of pyruvate kinase deficiency

Cited by 2 publications

References 14 publications

Pyruvate kinase deficiency and PKLR gene mutations: Insights from molecular dynamics simulation analysis

Pyruvate kinase deficiency and PKLR gene mutations: Insights from molecular dynamics simulation analysis

Case report: Compound heterozygosity in PKLR gene with a large exon deletion and a novel rare p.Gly536Asp variant as a cause of severe pyruvate kinase deficiency

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