Evidence map›Paper›PMID 27901321›Full record

ArticleAmerican journal of medical genetics. Part A2017

Copy number variants in a population-based investigation of Klippel-Trenaunay syndrome.

Aggeliki Dimopoulos, Robert J Sicko, Denise M Kay, Shannon L Rigler, Ruzong Fan, Paul A Romitti, Marilyn L Browne, Charlotte M Druschel, Michele Caggana, Lawrence C Brody and 1 more

Open access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of medical genetics. Part A, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
2.5field-weighted citation impact, top 11% 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

3 citing papers in PubMed, 13 citations in OpenAlex.

  1. Article
  2. Article
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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 at 7 institutions in 1 country.

Aggeliki DimopoulosDivision of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
Robert J SickoDivision of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York.
Denise M KayDivision of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York.
Shannon L RiglerDivision of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
Ruzong FanDivision of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
Paul A RomittiDepartment of Epidemiology, College of Public Health, The University of Iowa, Iowa City, Iowa.
Marilyn L BrowneCongenital Malformations Registry, New York State Department of Health, Albany, New York.
Charlotte M DruschelCongenital Malformations Registry, New York State Department of Health, Albany, New York.
Michele CagganaDivision of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York.
Lawrence C BrodyGenome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
James L MillsDivision of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
Eunice Kennedy Shriver National Institute of Child Health and Human Development · USNew York State Department of Health · USNational Human Genome Research Institute · USNational Institutes of Health · USUniversity at Albany, State University of New York · USUniversity of Iowa · USWadsworth Center · US

Funding

The contribution folate and vitamin B12 genes to disease.ZIAHG000167 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BRODY, LAWRENCE C · 2009 to 2025
$17.6M
Genetic Factors in Birth DefectsZIAHD008792 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI MILLS, JAMES · 2009 to 2023
$5.0M
Iowa CBDRP: Birth Defects Study To Evaluate Pregnancy exposureSU01DD001035 · DD · UNIVERSITY OF IOWA · PI ROMITTI, PAUL A · 2013 to 2017
$3.5M
NCBDD CDC HHS U01 DD001035NICHD NIH HHS HHSN275201100001INICHD NIH HHS N01 DK073431Wellcome Trust
6 · The paper itself

Abstract

Klippel-Trenaunay syndrome (KTS) is a rare congenital vascular disorder that is thought to occur sporadically; however, reports of familial occurrence suggest a genetic component. We examined KTS cases to identify novel, potentially causal copy number variants (CNVs). We identified 17 KTS cases from all live-births occurring in New York (1998-2010). Extracted DNA was genotyped using Illumina microarrays and CNVs were called using PennCNV software. CNVs selected for follow-up had ≥10 single nucleotide polymorphisms (SNPs) and minimal overlap with in-house controls or controls from the Database of Genomic Variants. We identified 15 candidate CNVs in seven cases; among them a deletion in two cases within transcripts of HDAC9, a histone deacetylase essential for angiogenic sprouting of endothelial cells. One of them also had a duplication upstream of SALL3, a transcription factor essential for embryonic development that inhibits DNMT3A, a DNA methyltransferase responsible for embryonic de novo DNA methylation. Another case had a duplication spanning ING5, a histone acetylation regulator active during embryogenesis. We identified rare genetic variants related to chromatin modification which may have a key role in regulating vascular development during embryogenesis. Further investigation of their implications in the pathogenesis of KTS is warranted. © 2016 Wiley Periodicals, Inc.

Indexed as

DNA Copy Number VariationsGenetic Association StudiesCase-Control StudiesChromosome MappingComparative Genomic HybridizationGenetic TestingGenotypeHistone DeacetylasesHumansKlippel-Trenaunay-Weber SyndromeMaternal AgePolymorphism, Single NucleotidePopulation SurveillancePrevalenceRegistriesRepressor ProteinsHDAC9 protein, humanHistone DeacetylasesRepressor Proteinsangiogenesischromatin modificationcopy number variantDNMT3AHDAC9ING5Klippel-Trenaunay syndromeSALL3

Identifiers

PMID27901321
PMCPMC6205266
OpenAlexW2559257745

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.