Evidence map›Paper›PMID 41121266›Full record

ArticleBMC medical genomics2025

Expanding the phenotype of CARS1 variants to include congenital hyperinsulinism.

Victoria R Sanders, Andrew C Edmondson, Albert C Yan, Diva D De Leon

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC medical genomics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

4 authors.

Victoria R SandersDivision of Endocrinology, Children's Hospital of Philadelphia, Philadelphia, PA, USA. sandersv@chop.edu.
Andrew C EdmondsonDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Albert C YanDepartment of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Diva D De LeonDivision of Endocrinology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Funding

Neurological Phenotyping in Hyperinsulinism – Administrative Supplement to Islet dysregulation in Infants with Congenital HyperinsulinismR01DK056268 · NIDDK · CHILDREN'S HOSP OF PHILADELPHIA · PI DE LEON, DIVA D., GANGULY, ARUPA · 1999 to 2024
$9.1M
NIDDK NIH HHS R01 DK056268NIH HHS R01-DK056268
6 · The paper itself

Abstract

backgroundCARS1 loss of function compound heterozygous or homozygous variants have been reported in five individuals to cause a neurodevelopmental phenotype that includes microcephaly and brittle hair and nails. Additional multisystem involvement in these five people have included neurologic, cardiac, ophthalmologic and endocrine problems. CASE PRESENTATION: We report a sixth person with novel compound heterozygous variants in CARS1. In addition to the previously reported features such as intellectual disability, neurologic features, microcephaly and hair abnormalities, this patient had persistent hypoglycemia due to congenital hyperinsulinism.

conclusionsThis report identifies two novel variants in CARS1 and expands the phenotype of this multisystem disorder to include congenital hyperinsulinism.

Indexed as

Congenital HyperinsulinismPhenotypeHumansCARS1Cysteinyl-tRNA synthetase 1Developmental delayHyperinsulinismMicrocephalyTrichorrhexis nodosa

Identifiers

PMID41121266
PMCPMC12542199

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Registered trials

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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.