Novel Compound Heterozygous

Sha Lin, Xintian Hua, Jinrong Li, Yifei Li

Open access · goldAbstract readCase Reports

In one paragraph

Article in Frontiers in cardiovascular medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it

0cells of the map it votes in

3citing papers in PubMed

0.2field-weighted citation impact, top 49% of its field

1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 2 citations in OpenAlex.

Two Novel PKLR Variants in Pyruvate Kinase Deficiency: Insights From Clinical, Molecular and Functional Analysis.International journal of laboratory hematology · 2026
Article
Neonatal Pyruvate Kinase Deficiency Presenting with Severe Hemolytic Anemia and Liver Failure.Children (Basel, Switzerland) · 2025
Article
PYK-SubstitutionOME: an integrated database containing allosteric coupling, ligand affinity and mutational, structural, pathological, bioinformatic and computational information about pyruvate kinase isozymes.Database : the journal of biological databases and curation · 2023
Article

4 · The record

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PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors at 2 institutions in 1 country.

Sha LinKey Laboratory of Birth Defects and Related Diseases of Women and Children of MOE, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.

Xintian HuaKey Laboratory of Birth Defects and Related Diseases of Women and Children of MOE, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.

Jinrong LiKey Laboratory of Birth Defects and Related Diseases of Women and Children of MOE, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.

Yifei LiKey Laboratory of Birth Defects and Related Diseases of Women and Children of MOE, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.

Sichuan University · CNWest China Second University Hospital of Sichuan University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Pulmonary hypertension could be associated with pyruvate kinase deficiency (PKD). There are few reported cases of PPHN as the first clinical manifestation of PKD. Herein we report a rare case of PKD in which the patient exhibited persistent pulmonary hypertension in the neonate (PPHN), and genetic testing helped to rapidly identify an potential association. Case presentation: The patient was a newborn boy who suffered from severe dyspnea, extreme anemia, skin pallor, and hypoxemia. Repeated echocardiography indicated persistent severe pulmonary hypertension with a calculated pulmonary artery pressure of 75 mmHg, and right ventricular hypertrophy. The administration of nitric oxide significantly reduced the pulmonary artery pressure. Whole-exome sequencing revealed a compound heterozygous mutation consisting of c.707T > G and c.826_827insAGGAGCATGGGG. PolyPhen_2 and MutationTaster indicated that both the c.707T > G (probability 0.999) and c.826_827insAGGAGCATGGGG (probability 0.998) mutations were disease causing. PROVEAN protein batch analysis indicated that the associated p.L236R region was deleterious (score -4.71) and damaging (SIFT prediction 0.00), and this was also the case for p.G275_V276insEEHG (deleterious score -12.00, SIFT prediction 0.00). Substantial structural changes in the transport domain of the protein were predicted using SWISS-MODEL, and indicated that both mutations led to an unstable protein structure. Thus, a novel compound heterozygous mutation of PKLR-induced PKD with PPHN was diagnosed. Conclusion: The current study suggests that molecular genetic screening is useful for identifying PPHN, particularly in children with metabolic disorders. In patients exhibiting unexplained hyperbilirubinemia combined with severe pulmonary hypertension, PKD might be a potential possible alternative explanation. Genetic screening is helpful for identifying genetic causes of pulmonary hypertension, especially in patients with PPHN. This report expands the mutation spectrum of the

Indexed as

case reportgenomic sequencepersistent pulmonary hypertension in the neonatePKLRpyruvate kinase deficiency

Identifiers

PMID35557523

DOI10.3389/fcvm.2022.872172

PMCPMC9086540

OpenAlexW4224440616

What OpenQuestion holds

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LicenceCC BY

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.