Evidence map›Paper›PMID 24555743›Full record

ArticleOphthalmic genetics2016

Hereditary Benign Intraepithelial Dyskeratosis: Report of a Case and Re-examination of the Evidence for Locus Heterogeneity.

Tina Bui, Jonathan W Young, Ricardo F Frausto, Thomas C Markello, Ben J Glasgow, Anthony J Aldave

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

Article in Ophthalmic genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 50% 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

2 citing papers in PubMed, 19 citations in OpenAlex.

  1. Review
  2. 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

6 authors at 1 institution in 1 country.

Tina Buia The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA , Los Angeles , CA , USA and.
Jonathan W Younga The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA , Los Angeles , CA , USA and.
Ricardo F Fraustoa The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA , Los Angeles , CA , USA and.
Thomas C Markellob Undiagnosed Diseases Program, Office of Rare Diseases, NIH , Bethesda , MD , USA.
Ben J Glasgowa The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA , Los Angeles , CA , USA and.
Anthony J Aldavea The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA , Los Angeles , CA , USA and.
Doheny Eye Institute · US

Funding

Vision Research Core at UCLAP30EY000331 · NEI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Gregory Darin Field, DAVID S WILLIAMS · 1985 to 2026
$16.8M
Identification and Characterization of the Genetic Basis of PPCDR01EY022082 · NEI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ALDAVE, ANTHONY JOHN · 2013 to 2017
$1.9M
NEI NIH HHS 1R01 EY022082NEI NIH HHS P30 EY000331NEI NIH HHS R01 EY022082
6 · The paper itself

Abstract

backgroundHereditary benign intraepithelial dyskeratosis (HBID) is a rare autosomal-dominant disorder of the conjunctiva and oral mucosa first described in and predominantly affecting descendents of Haliwa-Saponi Native Americans. We report a spontaneous case of histopathologically-confirmed HBID affecting an individual not of Native American ancestry. MATERIALS AND

methodsReport of a case with histopathologic examination of an excised conjunctival specimen as well as molecular and cytogenetic analysis.

resultsA Caucasian boy with a history of oral lesions and conjunctival injection from birth developed bilateral corneal opacities at age 5 and underwent penetrating keratoplasty, with recurrence of the corneal opacification shortly after surgery. Examination of a conjunctival biopsy specimen revealed features consistent with HBID. Copy number variant (CNV) analysis revealed a de novo 4q35 duplication that overlapped the duplication previously associated with HBID, although no genes were identified in the common interval. NLRP1 gene sequencing failed to reveal a presumed pathogenic variant.

conclusionsHBID may develop de novo in individuals who are not of Native American ancestry. The absence of coding regions in a duplicated region of 4q35 common to both the individual that we report and previously associated with HBID raises questions regarding the significance of this CNV in the pathogenesis of HBID.

Indexed as

White PeopleAdaptor Proteins, Signal TransducingApoptosis Regulatory ProteinsChildChromosome DuplicationChromosomes, Human, Pair 4Conjunctival DiseasesCorneal OpacityDNA Copy Number VariationsEpitheliumExomeHumansMaleMouth DiseasesNLR ProteinsPedigreeAdaptor Proteins, Signal TransducingApoptosis Regulatory ProteinsNLRP1 protein, humanNLR ProteinsHereditary benign intraepithelial dyskeratosisNLRP1segment duplication

Identifiers

PMID24555743
PMCPMC4139474
OpenAlexW1985869608

What OpenQuestion holds

Textmetadata
LicenceTDM
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.