Evidence map›Paper›PMID 37635636›Full record

ArticleMolecular genetics & genomic medicine2023

Exome sequencing findings in children with annular pancreas.

Georgia Pitsava, Nathan Pankratz, John Lane, Wei Yang, Shannon Rigler, Gary M Shaw, James L Mills

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics & genomic medicine, 2023. 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
1.0field-weighted citation impact, top 24% 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, 3 citations in OpenAlex.

  1. Article
  2. Syndromic variants of biliary atresia.World journal of pediatric surgery · 2025
    Review
  3. Exome sequencing findings in children with annular pancreas.Molecular genetics & genomic medicine · 2023
    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

7 authors at 4 institutions in 1 country.

Georgia PitsavaDivision of Intramural Research, Division of Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.ORCID 0000-0003-0249-8298
Nathan PankratzDepartment of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota, USA.
John LaneDepartment of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota, USA.
Wei YangDepartment of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.
Shannon RiglerDepartment of Neonatology, Naval Medical Center Portsmouth, Portsmouth, Virginia, USA.
Gary M ShawDepartment of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.
James L MillsDivision of Intramural Research, Division of Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
National Institutes of Health · USStanford University · USUniversity of Minnesota · USNaval Medical Center Portsmouth · US

Funding

Eunice Kennedy Shriver National Institute of Child Health and Human Development HHSN275201300023INCBDD CDC HHS U01 DD001226NCBDD CDC HHS U01 DD001302
6 · The paper itself

Abstract

backgroundAnnular pancreas (AP) is a congenital defect of unknown cause in which the pancreas encircles the duodenum. Theories include abnormal migration and rotation of the ventral bud, persistence of ectopic pancreatic tissue, and inappropriate fusion of the ventral and dorsal buds before rotation. The few reported familial cases suggest a genetic contribution.

methodsWe conducted exome sequencing in 115 affected infants from the California birth defects registry.

resultsSeven cases had a single heterozygous missense variant in IQGAP1, five of them with CADD scores >20; seven other infants had a single heterozygous missense variant in NRCAM, five of them with CADD scores >20. We also looked at genes previously associated with AP and found two rare heterozygous missense variants, one each in PDX1 and FOXF1.

conclusionIQGAP1 and NRCAM are crucial in cell polarization and migration. Mutations result in decreased motility which could possibly cause the ventral bud to not migrate normally. To our knowledge, this is the first study reporting a possible association for IQGAP1 and NRCAM with AP. Our findings of rare genetic variants involved in cell migration in 15% of our population raise the possibility that AP may be related to abnormal cell migration.

Indexed as

Exome SequencingForkhead Transcription FactorsMutation, MissensePancreasPancreatic Diseasesras GTPase-Activating ProteinsChildFemaleHeterozygoteHomeodomain ProteinsHumansInfantMaleTrans-ActivatorsForkhead Transcription FactorsHomeodomain ProteinsIQ motif containing GTPase activating protein 1pancreatic and duodenal homeobox 1 proteinras GTPase-Activating ProteinsTrans-Activatorsannular pancreascell migrationIQGAP1malformationNRCAM

Identifiers

PMID37635636
PMCPMC10568395
OpenAlexW4386209098

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.