Evidence map›Paper›PMID 36553465›Full record

ArticleGenes2022

Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation.

Ester Moreno-Artero, Fanny Morice-Picard, Eulalie Lasseaux, Matthieu P Robert, Valentine Coste, Vincent Michaud, Stéphanie Leclerc-Mercier, Dominique Bremond-Gignac, Benoit Arveiler, Smail Hadj-Rabia

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

Article in Genes, 2022. 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
0.9field-weighted citation impact, top 29% 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, 8 citations in OpenAlex.

  1. Article
  2. A patient with TPCN2-related hypopigmentation and ocular phenotype.European journal of human genetics : EJHG · 2025
    Article
  3. Review
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

10 authors at 4 institutions in 1 country.

Ester Moreno-ArteroDepartment of Dermatology, and Reference Centre for Genodermatoses and Rare Skin Diseases (MAGEC), Université Paris Descartes-Paris Cité, INSERM U1163, Institut Imagine, APHP, Hôpital Universitaire Necker-Enfants Malades, 75015 Paris, France.ORCID 0000-0003-1281-2009
Fanny Morice-PicardDepartment of Dermatology, Reference Centre for Genodermatoses and Rare Skin Diseases, INSERM U1312, Bordeaux University Hospital, 33000 Bordeaux, France.ORCID 0000-0002-4316-916X
Eulalie LasseauxDepartment of Medical Genetics, Bordeaux University Hospital, 33000 Bordeaux, France.
Matthieu P RobertDepartment of Ophthalmology, and Reference Center for Rare Eye Diseases (OPHTARA), Université Paris Cité, Hôpital Universitaire Necker-Enfants Malades, APHP, 75015 Paris, France.
Valentine CosteDepartment of Ophthalmology, Bordeaux University Hospital, 33000 Bordeaux, France.
Vincent MichaudDepartment of Medical Genetics, Bordeaux University Hospital, 33000 Bordeaux, France.ORCID 0000-0002-5788-392X
Stéphanie Leclerc-MercierDepartment of Pathology, and Reference Centre for Genodermatoses and Rare Skin Diseases (MAGEC), Université Paris Descartes-Paris Cité, APHP, Hôpital Universitaire Necker-Enfants Malades, 75015 Paris, France.ORCID 0000-0003-2468-3910
Dominique Bremond-GignacDepartment of Ophthalmology, and Reference Center for Rare Eye Diseases (OPHTARA), Université Paris Cité, Hôpital Universitaire Necker-Enfants Malades, APHP, 75015 Paris, France.ORCID 0000-0002-3563-5482
Benoit ArveilerDepartment of Medical Genetics, Bordeaux University Hospital, 33000 Bordeaux, France.ORCID 0000-0002-2987-2932
Smail Hadj-RabiaDepartment of Dermatology, and Reference Centre for Genodermatoses and Rare Skin Diseases (MAGEC), Université Paris Descartes-Paris Cité, INSERM U1163, Institut Imagine, APHP, Hôpital Universitaire Necker-Enfants Malades, 75015 Paris, France.
Inserm · FRHôpital Necker-Enfants Malades · FRDélégation Paris 5 · FRUniversité de Bordeaux · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Albinism is a genetic disorder, present worldwide, caused by mutations in genes affecting melanin production or transport in the skin, hair and eyes. To date, mutations in at least 20 different genes have been identified. Oculo-cutaneous Albinism type IV (OCA4) is the most frequent form in Asia but has been reported in all populations, including Europeans. Little is known about the genotype-phenotype correlation. We identified two main phenotypes via the analysis of 30 OCA4 patients with a molecularly proven diagnosis. The first, found in 20 patients, is clinically indistinguishable from the classical OCA1 phenotype. The genotype-to-phenotype correlation suggests that this phenotype is associated with homozygous or compound heterozygous nonsense or deletion variants with frameshift leading to translation interruption in the

Indexed as

PiebaldismGenotypeHumansMutationMutation, MissensePhenotypefoveal hypoplasiageneticshypopigmentationOCA4oculo-cutaneous albinismSLC45A2

Identifiers

PMID36553465
PMCPMC9777904
OpenAlexW4309845611

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.