Predicting the phenotype of Pompe Disease from features of GAA variants.

Geetanjali Rajamani, Nishitha R Pillai, Seth A Stafki, Peter I Karachunski, Peter B Kang

Abstract read

In one paragraph

Article in European journal of human genetics : EJHG, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it

0cells of the map it votes in

1citing papers in PubMed

–field-weighted citation impact

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

1 citing paper in PubMed.

Genotype-phenotype correlation and CRIM status in Vietnamese children with Pompe disease: a single-center experience.Future science OA · 2025
Article

4 · The record

Corrections and comments

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

5 authors.

Geetanjali RajamaniMedical School, University of Minnesota, Minneapolis, MN, USA.ORCID 0000-0002-1769-4307

Nishitha R PillaiDivision of Genetics and Metabolism, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, USA.ORCID 0000-0002-2943-2136

Seth A StafkiGreg Marzolf Jr. Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, MN, USA.

Peter I KarachunskiGreg Marzolf Jr. Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, MN, USA.

Peter B KangGreg Marzolf Jr. Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, MN, USA. pkang@umn.edu.ORCID 0000-0002-4270-7325

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

As the management of Pompe disease depends on whether an individual has infantile onset Pompe disease (IOPD) or late onset Pompe disease (LOPD), the question of whether the phenotype can be predicted from specific pathogenic variants is becoming increasingly important. We reviewed published cases of Pompe disease in which IOPD versus LOPD and pathogenic GAA variants were assigned for specific individuals. We then compared variant types and locations versus phenotypes. We identified 115 cases, 42 with IOPD and 73 with LOPD. We found that two features of GAA variants can help predict phenotype: (1) presence of a splice variant on at least one allele and (2) location in specific protein domains. These findings help provide prognoses for newborns diagnosed with Pompe disease. Our analysis will also help expecting and prospective parents who pursue genetic testing as they consider therapeutic options that may be beneficial to implement soon after birth.

Indexed as

alpha-GlucosidasesGlycogen Storage Disease Type IIPhenotypeHumansInfantInfant, Newbornalpha-GlucosidasesGAA protein, human

Identifiers

PMID39775060

DOI10.1038/s41431-024-01771-z

PMCPMC12048532

What OpenQuestion holds

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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.