Evidence map›Paper›PMID 38234180›Full record

ArticleAmerican journal of medical genetics. Part A2024

Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome.

Joseph Farris, Cheryl Khanna, James B Smadbeck, Sarah H Johnson, Erick Bothun, Tyler Kaplan, Francis Hoffman, Katarzyna Polonis, Gavin Oliver, Linda M Reis and 7 more

Open access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of medical genetics. Part A, 2024. 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
2.2field-weighted citation impact, top 13% 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, 4 citations in OpenAlex.

  1. Article
  2. Review
  3. In Vivo Assessment of Retinal Phenotypes in Axenfeld-Rieger Syndrome.Investigative ophthalmology & visual science · 2024
    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

17 authors at 3 institutions in 1 country.

Joseph FarrisCenter for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.ORCID 0000-0001-7691-8334
Cheryl KhannaDepartment of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA.
James B SmadbeckCenter for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.
Sarah H JohnsonCenter for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.
Erick BothunDepartment of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA.
Tyler KaplanDepartment of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA.
Francis HoffmanDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Katarzyna PolonisDepartment of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri, USA.ORCID 0000-0001-5767-0484
Gavin OliverCenter for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.
Linda M ReisDepartment of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, Wisconsin, USA.
Elena V SeminaDepartment of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, Wisconsin, USA.
Laura RustDepartment of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.
Nicole L HoppmanDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
George VasmatzisDepartment of Molecular Medicine, Mayo Clinic, Rochester, Minnesota, USA.
Cherisse A MarcouDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Lisa A SchimmentiDepartment of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.
Eric W KleeCenter for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.
Mayo Clinic · USChildren's Hospital of Wisconsin · USWashington University in St. Louis · US

Funding

Molecular Mechanisms of Axenfeld-Rieger SyndromeR01EY015518 · NEI · MEDICAL COLLEGE OF WISCONSIN · PI Elena V Semina · 2005 to 2026
$5.6M
NEI NIH HHS R01 EY015518NIH HHS
6 · The paper itself

Abstract

Axenfeld-Rieger Syndrome (ARS) type 1 is a rare autosomal dominant condition characterized by anterior chamber anomalies, umbilical defects, dental hypoplasia, and craniofacial anomalies, with Meckel's diverticulum in some individuals. Here, we describe a clinically ascertained female of childbearing age with ARS for whom clinical targeted sequencing and deletion/duplication analysis followed by clinical exome and genome sequencing resulted in no pathogenic variants or variants of unknown significance in PITX2 or FOXC1. Advanced bioinformatic analysis of the genome data identified a complex, balanced rearrangement disrupting PITX2. This case is the first reported intrachromosomal rearrangement leading to ARS, illustrating that for patients with compelling clinical phenotypes but negative genomic testing, additional bioinformatic analysis are essential to identify subtle genomic abnormalities in target genes.

Indexed as

Anterior Eye SegmentEye AbnormalitiesEye Diseases, HereditaryHomeobox Protein PITX2FemaleForkhead Transcription FactorsHomeodomain ProteinsHumansForkhead Transcription FactorsHomeobox Protein PITX2Homeodomain ProteinsPITX2 protein, humanAxenfeld‐Rieger Syndromecomplex chromosomal rearrangementPITX2rare disease

Identifiers

PMID38234180
PMCPMC11003841
OpenAlexW4390978901

What OpenQuestion holds

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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.