Evidence map›Paper›PMID 38990107›Full record

ArticleBirth defects research2024

Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.

Elizabeth E Blue, Kristin J Moore, Kari E North, Tania A Desrosiers, Suzan L Carmichael, Janson J White, Jessica X Chong, Michael J Bamshad, Mary M Jenkins, Lynn M Almli and 16 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Birth defects research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

26 authors.

Elizabeth E BlueDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington, USA.
Kristin J MooreDepartment of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Kari E NorthDepartment of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Tania A DesrosiersDepartment of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Suzan L CarmichaelDepartment of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.
Janson J WhiteDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.
Jessica X ChongBrotman-Baty Institute for Precision Medicine, Seattle, Washington, USA.
Michael J BamshadBrotman-Baty Institute for Precision Medicine, Seattle, Washington, USA.
Mary M JenkinsNational Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.ORCID https://orcid.org/0000-0002-4399-1348
Lynn M AlmliNational Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
Lawrence C BrodyDivision of Genomics and Society, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Sharon F FreedmanDepartment of Ophthalmology, Duke University Medical Center, Durham, North Carolina, USA.
Jennita ReefhuisNational Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
Paul A RomittiDepartment of Epidemiology, College of Public Health, The University of Iowa, Iowa City, Iowa, USA.ORCID https://orcid.org/0000-0001-5393-9984
Gary M ShawDepartment of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.ORCID https://orcid.org/0000-0001-7438-4914
Martha WerlerDepartment of Epidemiology, School of Public Health, Boston University, Boston, Massachusetts, USA.
Denise M KayDivision of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, USA.
Marilyn L BrowneNew York State Department of Health, Birth Defects Registry, Albany, New York, USA.ORCID https://orcid.org/0000-0002-1872-2787
Marcia L FeldkampDivision of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA.ORCID https://orcid.org/0000-0001-9171-7848
Richard H FinnellCenter for Precision Environmental Health, Departments of Molecular and Cellular Biology and Medicine, Baylor College of Medicine, Houston, Texas, USA.
Wendy N NembhardDepartment of Epidemiology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.ORCID https://orcid.org/0000-0002-8318-4049
Faith PangilinanDivision of Genomics and Society, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Andrew F OlshanDepartment of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.ORCID https://orcid.org/0000-0001-9115-5128
National Institutes of Health Intramural Sequencing Center
University of Washington Center for Mendelian Genomics
National Birth Defects Prevention Study

Funding

UNC-CH CENTER FOR ENVIRONMENTAL HEALTH &SUSCEPTIBILITYP30ES010126 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Hazel B Nichols · 2001 to 2026
$36.3M
University of Washington Mendelian Genomics Research Center (UW-MGRC)U01HG011744 · NHGRI · UNIVERSITY OF WASHINGTON · PI MICHAEL Joseph BAMSHAD, Evan Eichler · 2021 to 2026
$15.8M
UW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3M
University of Washington (UW) Mendelian Genomics Data Coordinating CenterU24HG011746 · NHGRI · UNIVERSITY OF WASHINGTON · PI Susanne May, ALI SHOJAIE · 2021 to 2026
$14.8M
NHGRI Genome Sequencing Program Coordinating CenterU24HG008956 · NHGRI · RUTGERS, THE STATE UNIV OF N.J. · PI BUYSKE, STEVEN G, MATISE, TARA C. · 2016 to 2020
$4.9M
The North Carolina Center for Birth Defects Research and PreventionU01DD000488 · DD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI OLSHAN, ANDREW · 2009 to 2013
$4.4M
New York State Component A: BD-STEPS II CoreU01DD001227 · DD · CENTER OF ENVIRONMENTAL HEALTH · PI HOWLEY, MEREDITH M · 2018 to 2022
$4.2M
Component A: BD-STEPS II Core at North Carolina Center for Birth Defects Research and Prevention (NC BDSTEPS II Core)U01DD001231 · DD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI DESROSIERS, TANIA A., OLSHAN, ANDREW · 2018 to 2022
$4.2M
CALIFORNIA CENTER OF BD-STEPS II FINDING CAUSES AND PREVENTIVES OF BIRTH DEFECTSU01DD001226 · DD · STANFORD UNIVERSITY · PI SHAW, GARY M · 2018 to 2022
$4.0M
North Carolina Birth Defects Study To Evaluate Pregnancy Exposures (NC BD-STEPS)U01DD001036 · DD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI OLSHAN, ANDREW · 2013 to 2017
$3.5M
New York State BD-STEPS: Component A and BU01DD001304 · DD · NYSDOH/HEALTH RESEARCH, INC. · PI HOWLEY, MEREDITH M · 2023 to 2025
$2.6M
Component A: BD-STEPS Core at the NC Center for Birth Defects Research and PreventionU01DD001308 · DD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI DESROSIERS, TANIA A., OLSHAN, ANDREW · 2023 to 2025
$1.7M
CDC HHS FOA #DD09-001CDC HHS FOA #DD13-003CDC HHS NOFO #DD18-001CDC HHS PA #02081CDC HHS PA #96043CDC HHS U01DD001231EPA EP-D-18-001HSRD VA CDP 13-003NCBDD CDC HHS U01 DD000488NCBDD CDC HHS U01 DD001036NCBDD CDC HHS U01 DD001226NCBDD CDC HHS U01 DD001227NCBDD CDC HHS U01 DD001231NCBDD CDC HHS U01 DD001302NCBDD CDC HHS U01 DD001304NCBDD CDC HHS U01 DD001308NHGRI NIH HHS U01 HG011744NHGRI NIH HHS U24 HG008956NHGRI NIH HHS U24 HG011746NHGRI NIH HHS UM1 HG006493NIEHS NIH HHS P30 ES010126
6 · The paper itself

Abstract

backgroundPrimary congenital glaucoma (PCG) affects approximately 1 in 10,000 live born infants in the United States (U.S.). PCG has a autosomal recessive inheritance pattern, and variable expressivity and reduced penetrance have been reported. Likely causal variants in the most commonly mutated gene, CYP1B1, are less prevalent in the U.S., suggesting that alternative genes may contribute to the condition. This study utilized exome sequencing to investigate the genetic architecture of PCG in the U.S. and to identify novel genes and variants.

methodsWe studied 37 family trios where infants had PCG and were part of the National Birth Defects Prevention Study (births 1997-2011), a U.S. multicenter study of birth defects. Samples underwent exome sequencing and sequence reads were aligned to the human reference sample (NCBI build 37/hg19). Variant filtration was conducted under de novo and Mendelian inheritance models using GEMINI.

resultsAmong candidate variants, CYP1B1 was most represented (five trios, 13.5%). Twelve probands (32%) had potentially pathogenic variants in other genes not previously linked to PCG but important in eye development and/or to underlie Mendelian conditions with potential phenotypic overlap (e.g., CRYBB2, RXRA, GLI2).

conclusionVariation in the genes identified in this population-based study may help to further explain the genetics of PCG.

Indexed as

Cytochrome P-450 CYP1B1ExomeExome SequencingGlaucomaFemaleGenetic Predisposition to DiseaseHumansInfantInfant, NewbornMaleMutationUnited StatesCYP1B1 protein, humanCytochrome P-450 CYP1B1birth defectscongenital glaucomaCYP1B1geneticsmutationsnewborn eye abnormalities

Identifiers

PMID38990107
PMCPMC11245170

What Socratic holds

Textmetadata
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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 Socratic graph.