Evidence map›Paper›PMID 36951427›Full record

ArticleOphthalmic genetics2023

A novel variant affecting the cytoplasmic tail of the FAT1 protocadherin causing coloboma and renal failure: A case report.

Emile R Vieta-Ferrer, Ehsan Ullah, Delphine Blain, Julie A Christensen, Carmen C Brewer, James E Balow, Aman George, Robert B Hufnagel, Tiziana Cogliati, Brian P Brooks

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

Article in Ophthalmic genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
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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

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

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 1 institution in 1 country.

Emile R Vieta-FerrerPediatric, Developmental, and Genetic Ophthalmology Section, Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
Ehsan UllahOphthalmic Genetics Laboratory, Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
Delphine BlainPediatric, Developmental, and Genetic Ophthalmology Section, Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
Julie A ChristensenAudiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA.
Carmen C BrewerAudiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA.
James E BalowKidney Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Aman GeorgeOphthalmic Genetics Laboratory, Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
Robert B HufnagelOphthalmic Genetics Laboratory, Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
Tiziana CogliatiPediatric, Developmental, and Genetic Ophthalmology Section, Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
Brian P BrooksPediatric, Developmental, and Genetic Ophthalmology Section, Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.ORCID 0000-0002-1916-7551
National Institutes of Health · US

Funding

The Genetics of Uveal ColobomaZIAEY000469 · NEI · NATIONAL EYE INSTITUTE · PI BROOKS, BRIAN · 2009 to 2025
$35.2M
Clinical Analysis Of Disorders Of Hearing And BalanceZIADC000064 · NIDCD · NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS · PI HERTZANO, RONNA · 2009 to 2025
$25.2M
Genomic and epigenomic mechanisms of pediatric ocular disordersZIAEY000565 · NEI · NATIONAL EYE INSTITUTE · PI HUFNAGEL, ROBERT · 2019 to 2024
$11.4M
Clinical ophthalmic molecular diagnostics and discoveryZIAEY000564 · NEI · NATIONAL EYE INSTITUTE · PI GUAN, BIN · 2019 to 2025
$7.9M
Intramural NIH HHS ZIA EY000469
6 · The paper itself

Abstract

backgroundVariations in the protocadherin gene MATERIALS AND

methodsDetailed medical and family history, physical examination, and molecular analysis.

resultsThis non-dysmorphic, intellectually normal 51-year-old woman presented with bilateral colobomata and renal failure of unclear etiology, and asymmetric sensorineural hearing loss. Family history was notable for multiple family members with various forms of cancer. Whole exome sequencing revealed a homozygous frame shift variant in

conclusionsThis case provides further evidence of the pleiotropic effects of FAT1 in optic fissure closure and kidney function. Also, because this variant is in the last exon, it would be anticipated to escape nonsense-mediated decay, opening the possibility that the protein is made and expressed, but not completely functional, as its intracellular domain is truncated.

Indexed as

ColobomaRenal InsufficiencyCadherinsFemaleHumansMiddle AgedProtocadherinsCadherinsFAT1 protein, humanProtocadherins

Identifiers

PMID36951427
PMCPMC10039284
OpenAlexW4321494379

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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.