Evidence map›Paper›PMID 26694549›Full record

ArticleHuman mutation2016

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

Alan S Ma, John R Grigg, Gladys Ho, Ivan Prokudin, Elizabeth Farnsworth, Katherine Holman, Anson Cheng, Frank A Billson, Frank Martin, Clare Fraser and 6 more

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

Article in Human mutation, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 82 papers.

0numbers the graph read from it
0cells of the map it votes in
82citing papers in PubMed
5.0field-weighted citation impact, top 4% 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

82 citing papers in PubMed, 135 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Candidate Genes for Non-Syndromic Pediatric Cataracts.Clinical ophthalmology (Auckland, N.Z.) · 2026
    Review
  7. Article
  8. Article
  9. Article
  10. Review
  11. Article
  12. Article
  13. Article
  14. Review
  15. Article
  16. Article
  17. Review
  18. Article
  19. NovelInternational journal of ophthalmology · 2024
    Article
  20. Dual diagnosis ofRare (Amsterdam, Netherlands) · 2024
    Article

22 more citing papers are in PubMed but not listed here.

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

16 authors at 4 institutions in 1 country.

Alan S MaEye Genetics Research, The Children's Hospital at Westmead, Save Sight Institute, Children's Medical Research Institute, University of Sydney, Sydney, New South Wales, Australia.
John R GriggEye Genetics Research, The Children's Hospital at Westmead, Save Sight Institute, Children's Medical Research Institute, University of Sydney, Sydney, New South Wales, Australia.
Gladys HoWestern Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
Ivan ProkudinEye Genetics Research, The Children's Hospital at Westmead, Save Sight Institute, Children's Medical Research Institute, University of Sydney, Sydney, New South Wales, Australia.
Elizabeth FarnsworthWestern Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
Katherine HolmanWestern Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
Anson ChengEye Genetics Research, The Children's Hospital at Westmead, Save Sight Institute, Children's Medical Research Institute, University of Sydney, Sydney, New South Wales, Australia.
Frank A BillsonEye Genetics Research, The Children's Hospital at Westmead, Save Sight Institute, Children's Medical Research Institute, University of Sydney, Sydney, New South Wales, Australia.
Frank MartinDepartment of Ophthalmology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
Clare FraserDiscipline of Ophthalmology, Sydney Medical School, University of Sydney, New South Wales, Australia.
David MowatDepartment of Medical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia.
James SmithDepartment of Ophthalmology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
John ChristodoulouWestern Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
Maree FlahertyEye Genetics Research, The Children's Hospital at Westmead, Save Sight Institute, Children's Medical Research Institute, University of Sydney, Sydney, New South Wales, Australia.
Bruce BennettsWestern Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
Robyn V JamiesonEye Genetics Research, The Children's Hospital at Westmead, Save Sight Institute, Children's Medical Research Institute, University of Sydney, Sydney, New South Wales, Australia.
Children's Hospital at Westmead · AUUniversity of Sydney · AUChildren's Medical Research Institute · AUSydney Children's Hospital · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital cataracts are a significant cause of lifelong visual loss. They may be isolated or associated with microcornea, microphthalmia, anterior segment dysgenesis (ASD) and glaucoma, and there can be syndromic associations. Genetic diagnosis is challenging due to marked genetic heterogeneity. In this study, next-generation sequencing (NGS) of 32 cataract-associated genes was undertaken in 46 apparently nonsyndromic congenital cataract probands, around half sporadic and half familial cases. We identified pathogenic variants in 70% of cases, and over 68% of these were novel. In almost two-thirds (20/33) of these cases, this resulted in new information about the diagnosis and/or inheritance pattern. This included identification of: new syndromic diagnoses due to NHS or BCOR mutations; complex ocular phenotypes due to PAX6 mutations; de novo autosomal-dominant or X-linked mutations in sporadic cases; and mutations in two separate cataract genes in one family. Variants were found in the crystallin and gap junction genes, including the first report of severe microphthalmia and sclerocornea associated with a novel GJA8 mutation. Mutations were also found in rarely reported genes including MAF, VIM, MIP, and BFSP1. Targeted NGS in presumed nonsyndromic congenital cataract patients provided significant diagnostic information in both familial and sporadic cases.

Indexed as

Genetic Association StudiesHigh-Throughput Nucleotide SequencingMutationAllelesAmino Acid SequenceCataractChildChild, PreschoolComputational BiologyConnexin 50ConnexinsCrystallinsDNA Mutational AnalysisExomeFemaleGenes, X-LinkedBCOR protein, humanConnexin 50ConnexinsCrystallinsGJA3 protein, humanMAF protein, humanMembrane ProteinsNHS protein, humanNuclear ProteinsPAX6 Transcription FactorProto-Oncogene ProteinsProto-Oncogene Proteins c-mafRepressor Proteinscongenital cataracteyemicrocorneamicrophthalmianext-generation sequencing

Identifiers

PMID26694549
PMCPMC4787201
OpenAlexW2217949600

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.