Evidence map›Paper›PMID 42327344›Full record

ArticleHuman mutation2026

Compound Heterozygous Variants in the Phospholipase Gene PNPLA6 Cause Hypopituitarism and Vision Loss.

Sebastian Vishnopolska, James Liu, Maria Andrea Camilletti, Julian Martinez Mayer, Lucia Iglesias Garcia, Michelle Brinkmeier, Elisa Vaiani, Sofia Hebe Vidal, Marta Ciaccio, María Isabel Di Palma and 5 more

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

Article in Human mutation, 2026. 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

15 authors.

Sebastian VishnopolskaDepartment of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA, umich.edu.ORCID https://orcid.org/0000-0002-1729-9948
James LiuOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA, nih.gov.ORCID https://orcid.org/0009-0002-2871-3865
Maria Andrea CamillettiInstitute of Neurosciences (INEU-CONICET), Foundation for the Fight Against Neurological Diseases of Childhood (FLENI), Buenos Aires, Argentina.ORCID https://orcid.org/0000-0002-5160-5523
Julian Martinez MayerInstitute of Physiology, Molecular Biology and Neurosciences (IFIBYNE) CONICET, University of Buenos Aires, Buenos Aires, Argentina, uba.ar.ORCID https://orcid.org/0000-0003-3696-7291
Lucia Iglesias GarciaInstitute of Physiology, Molecular Biology and Neurosciences (IFIBYNE) CONICET, University of Buenos Aires, Buenos Aires, Argentina, uba.ar.ORCID https://orcid.org/0000-0002-1186-7692
Michelle BrinkmeierDepartment of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA, umich.edu.ORCID https://orcid.org/0000-0001-9505-4682
Elisa VaianiEndocrinology Service-CONICET, Garrahan Hospital, Buenos Aires, Argentina.ORCID https://orcid.org/0000-0002-6787-8120
Sofia Hebe VidalOphthalmology Service, Garrahan Hospital, Buenos Aires, Argentina.ORCID https://orcid.org/0000-0003-0568-2947
Marta CiaccioEndocrinology Service-CONICET, Garrahan Hospital, Buenos Aires, Argentina.ORCID https://orcid.org/0000-0002-8167-0713
María Isabel Di PalmaEndocrinology Service-CONICET, Garrahan Hospital, Buenos Aires, Argentina.
Alicia BelgoroskyEndocrinology Service-CONICET, Garrahan Hospital, Buenos Aires, Argentina.ORCID https://orcid.org/0000-0002-4234-400X
Marcelo MartiDepartment of Biological Chemistry, Faculty of Exact and Natural Sciences, University of Buenos Aires (FCEyN-UBA) and Institute of Biological Chemistry of the Faculty of Exact and Natural Sciences (IQUIBICEN) CONICET, Buenos Aires, Argentina.ORCID https://orcid.org/0000-0002-7911-9340
Robert B HufnagelOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA, nih.gov.
Sally A CamperDepartment of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA, umich.edu.ORCID https://orcid.org/0000-0001-8556-3379
Maria Ines Perez-MillanInstitute of Physiology, Molecular Biology and Neurosciences (IFIBYNE) CONICET, University of Buenos Aires, Buenos Aires, Argentina, uba.ar.ORCID https://orcid.org/0000-0002-0486-109X

Funding

Discovery Pipeline for Genetic Defects in Hypothalamic-pituitary Development Using International Mouse Phenotyping Consortium MiceR01HD108156 · NICHD · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Sally A. Camper, SHANNON William DAVIS · 2023 to 2026
$2.6M
NICHD NIH HHS R01 HD108156
6 · The paper itself

Abstract

PNPLA6 is a conserved lysophospholipase essential for maintaining nervous system integrity. Biallelic mutations in

Indexed as

HeterozygoteHypopituitarismLipaseMutationPhospholipasesAcyltransferasesAnimalsChildFemaleHumansMiceMutation, MissensePhenotypeAcyltransferasesLipasePhospholipasesPNPLA6 protein, humanBoucher–Neuhäuser syndromeGordon–Holmes syndromegrowth hormone deficiencyLaurence–Moon syndromeneuropathy target esteraseOliver–McFarlane syndromeretinitis pigmentosaspastic paraplegia type 39

Identifiers

PMID42327344
PMCPMC13282554

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.