Evidence map›Paper›PMID 25007332›Full record

ArticleOphthalmic genetics2016

Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration.

Jacque L Duncan, Pooja Biswas, Igor Kozak, Mili Navani, Reema Syed, Shiri Soudry, Moreno Menghini, Rafael C Caruso, Brett G Jeffrey, John R Heckenlively and 4 more

Abstract read
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 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing 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

10 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Review
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. 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

14 authors.

Jacque L Duncana Department of Ophthalmology , University of California , San Francisco , CA , USA .
Pooja Biswasb Shiley Eye Center, University of California , San Diego , La Jolla , CA , USA .
Igor Kozakb Shiley Eye Center, University of California , San Diego , La Jolla , CA , USA .
Mili Navanib Shiley Eye Center, University of California , San Diego , La Jolla , CA , USA .
Reema Syeda Department of Ophthalmology , University of California , San Francisco , CA , USA .
Shiri Soudrya Department of Ophthalmology , University of California , San Francisco , CA , USA .
Moreno Menghinia Department of Ophthalmology , University of California , San Francisco , CA , USA .
Rafael C Carusoc National Eye Institute, NIH , Bethesda , MD , USA .
Brett G Jeffreyc National Eye Institute, NIH , Bethesda , MD , USA .
John R Heckenlivelye Department of Ophthalmology , University of Michigan , Ann Arbor , MI , USA .
G Bhanuprakash Reddyf National Institute of Nutrition, Indian Council of Medical Research , Hyderabad , India .
Pauline Leeb Shiley Eye Center, University of California , San Diego , La Jolla , CA , USA .
Austin Roordah School of Optometry and Vision Science Graduate Group, University of California , Berkeley , CA , USA.
Radha Ayyagarib Shiley Eye Center, University of California , San Diego , La Jolla , CA , USA .

Funding

Rapid-Prototyping and Design CoreP30EY002162 · NEI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI LAKKARAJU, APARNA · 1985 to 2024
$16.8M
Advanced Technology to Study Visual Function on a Cellular ScaleR01EY023591 · NEI · UNIVERSITY OF CALIFORNIA BERKELEY · PI DUNCAN, JACQUE LYNNE, ROORDA, AUSTIN · 2014 to 2023
$11.2M
Vision BiostatisticsP30EY022589 · NEI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Derek Stuart Welsbie · 2012 to 2026
$10.3M
HEMOCHROMATOSIS--EPIDEMIOLOGY AND MOLECULAR MECHANISMSR01DK053505 · NIDDK · SCRIPPS RESEARCH INSTITUTE, THE · PI LEE, PAULINE L · 1998 to 2010
$7.8M
Molecular Basis of Hereditary Retinal DegenerationsR01EY021237 · NEI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI AYYAGARI, RADHA · 2011 to 2020
$5.6M
Molecular Mechanisms Underlying Macular DegenerationsR01EY013198 · NEI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI AYYAGARI, RADHA · 2001 to 2011
$4.0M
NCRR NIH HHS U54 RR025204NEI NIH HHS EY002162NEI NIH HHS P30 EY002162NEI NIH HHS P30 EY022589NEI NIH HHS P30EY22589NEI NIH HHS R01 EY013198NEI NIH HHS R01 EY021237NEI NIH HHS R01 EY023591NIDDK NIH HHS DK53505-12NIDDK NIH HHS R01 DK053505PHS HHS R01EYO21237
6 · The paper itself

Abstract

backgroundCharacterization of retinal degeneration (RD) using high-resolution retinal imaging and exome sequencing may identify phenotypic features that correspond with specific genetic defects. MATERIALS AND

methodsSix members from a non-consanguineous Indian family (three affected siblings, their asymptomatic parents and an asymptomatic child) were characterized clinically, using visual acuity, perimetry, full-field electroretinography (ERG), optical coherence tomography and cone structure as outcome measures. Cone photoreceptors were imaged in the proband using adaptive optics scanning laser ophthalmoscopy. The exome was captured using Nimblegen SeqCap EZ V3.0 probes and sequenced using lllumina HiSeq. Reads were mapped to reference hg19. Confirmation of variants and segregation analysis was performed using dideoxy sequencing.

resultsAnalysis of exome variants using exomeSuite identified five homozygous variants in four genes known to be associated with RD. Further analysis revealed a homozygous nonsense mutation, c.1105 C > T, p.Arg335Ter, in the FAM161A gene segregating with RD. Three additional variants were found to occur at high frequency. Affected members showed a range of disease severity beginning at different ages, but all developed severe visual field and outer retinal loss.

conclusionsExome analysis revealed a nonsense homozygous mutation in FAM161A segregating with RD with severe vision loss and a range of disease onset and progression. Loss of outer retinal structures demonstrated with high-resolution retinal imaging suggests FAM161A is important for normal photoreceptor structure and survival. Exome sequencing may identify causative genetic variants in autosomal recessive RD families when other genetic test strategies fail to identify a mutation.

Indexed as

Codon, NonsenseAdultAgedBlindnessDNA Mutational AnalysisElectroretinographyExomeEye ProteinsFemaleHumansMaleMiddle AgedPedigreePhenotypeRetinal DegenerationTomography, Optical CoherenceCodon, NonsenseEye ProteinsFAM161A protein, humanExome sequencingFAM161Aretinal degeneration

Identifiers

PMID25007332
PMCPMC4289132

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.