Evidence map›Paper›PMID 41230208›Full record

ArticleMolecular syndromology2025

Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33.

Busra Aynekin, Bahadır M Samur, Ummu Gulsum Ozgul Gumus, Kaya Bilguvar, Ayten Gulec, Stephanie Efthymiou, Hakan Gumus, Ahmet Okay Caglayan, Huseyin Per

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular syndromology, 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.

  1. 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

9 authors.

Busra AynekinDepartment of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
Bahadır M SamurDivision of Child Neurology, Department of Pediatrics, Shands Children's Hospital, University of Florida, Gainesville, FL, USA.
Ummu Gulsum Ozgul GumusDivision of Pediatric Radiology, Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
Kaya BilguvarDepartments of Neurosurgery, Neurobiology and Genetics, Yale School of Medicine, New Haven, CT, USA.
Ayten GulecDivision of Pediatric Neurology, Department of Pediatrics, Erciyes University Faculty of Medicine, Kayseri, Turkey.
Stephanie EfthymiouDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.
Hakan GumusDivision of Pediatric Neurology, Department of Pediatrics, Erciyes University Faculty of Medicine, Kayseri, Turkey.
Ahmet Okay CaglayanDepartments of Neurosurgery, Neurobiology and Genetics, Yale School of Medicine, New Haven, CT, USA.
Huseyin PerDivision of Pediatric Neurology, Department of Pediatrics, Erciyes University Faculty of Medicine, Kayseri, Turkey.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Joubert syndrome type 33 (JBTS33) is a rare autosomal recessive disorder characterized by developmental delay, severe renal disease, hypotonia/ataxia, cerebellar vermian hypoplasia/aplasia, optic nerve atrophy, renal atrophy, and the "molar tooth sign" on imaging. Nearly 40 genes associated with Joubert syndrome have been identified, including CEP290, TMEM216, TMEM67, AHI1, and CC2D2A. Methods: We report a consanguineous family with JBTS33 diagnosed through whole-exome sequencing. A novel biallelic homozygous nonsense mutation (ENST00000326291.11: c.1231C>T; p.Arg411Ter) in progesterone-induced blocking factor 1 (PIBF1) was identified. Results: Our study included 3 patients with the same homozygous mutation in Conclusion: This study confirmed

Indexed as

Developmental delayJoubert syndromeMolar tooth signPIBF1Renal cystic dysplasiaRetinal dystrophyWhole-exome sequencing

Identifiers

PMID41230208
PMCPMC12603874

What OpenQuestion holds

Textmetadata
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.