Evidence map›Paper›PMID 39747279›Full record

ArticleScientific reports2025

Genome sequencing reveals novel variants in a diverse population with congenital anterior segment anomalies.

Ashraf Hussain, Maria Fernanda Villalba, Dayna Morel Swols, Rayan Abou Khzam, Brittney Keira Johnson, LéShon Peart, Sarha D'Haiti, Alana L Grajewski, Mustafa Tekin, Ta Chen Chang and 1 more

Abstract read
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In one paragraph

Article in Scientific reports, 2025. 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
–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

2 citing papers in PubMed.

  1. Health inequalities in precision medicine: A systematic review.European journal of human genetics : EJHG · 2026
    Review
  2. 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

11 authors.

Ashraf HussainDepartment of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.
Maria Fernanda VillalbaBascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.
Dayna Morel SwolsDepartment of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.
Rayan Abou KhzamBascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.
Brittney Keira JohnsonDepartment of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.
LéShon PeartDepartment of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.
Sarha D'HaitiDepartment of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.
Alana L GrajewskiBascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.
Mustafa TekinDepartment of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.
Ta Chen ChangBascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.
Guney BademciDepartment of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA. g.bademci@med.miami.edu.

Funding

Shared Equipment ModuleP30EY014801 · NEI · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI Dmitry V Ivanov · 2004 to 2026
$12.2M
NEI NIH HHS P30 EY014801NIH Center Core Grant P30EY014801Research to Prevent Blindness GR004596-1University of Miami ITS grant PG014234
6 · The paper itself

Abstract

Congenital anterior segment anomalies are disorders that affect the development of the eye and cause severe visual impairment. The molecular basis of congenital anterior segment anomalies is not well known. In this study, genome sequencing was performed on 27 families from diverse ethnicities with congenital anterior segment anomalies and 11 variants were identified, most of which were novel and family specific. These variants included single nucleotide variants CPAMD8:c.4825 C > T, c.534 G > A, CRYBB1:c.683 C > A, NHS:c.1180 C > T, GJA3:c.176 C > T, CRYGC:c.470 G > A, COL2A1:c.2819 G > A, c.1693 C > T, EPHA2:c.2864 A > C, a splice donor variant in COL11A1:c.933 + 1del, and a copy number variant in FBN1. The observed inheritance patterns were predominantly dominant, with a few recessive cases and a single instance of X-linked inheritance. Genome sequencing identified variants in 40.74% of diverse cases, offering valuable insights for enhancing the diagnosis and management of this disorder.

Indexed as

Anterior Eye SegmentAdipokinesAdultChildCollagen Type XIDNA Copy Number VariationsEye AbnormalitiesFemaleFibrillin-1HumansMaleMutationPedigreePolymorphism, Single NucleotideWhole Genome SequencingAdipokinesCOL11A1 protein, humanCollagen Type XIFBN1 protein, humanFibrillin-1Anterior segment anomalyCataractCongenitalEthnicitiesGenome sequencingGlaucoma

Identifiers

PMID39747279
PMCPMC11695809

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