Evidence map›Paper›PMID 31560829›Full record

ArticleMolecular genetics & genomic medicine2019

Novel ELN mutation in a Japanese family with a severe form of supravalvular aortic stenosis.

Kaori Sugiyama, Hitoshi Horigome, Lisheng Lin, Takashi Murakami, Junko Shiono, Yoshito Yamashiro, Hiroyuki Matsuura, Hitoshi Yoda, Hiromi Yanagisawa

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

Article in Molecular genetics & genomic medicine, 2019. 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
0.2field-weighted citation impact, top 42% 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, 5 citations in OpenAlex.

  1. Review
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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

9 authors at 3 institutions in 1 country.

Kaori SugiyamaLife Science Center for Survival Dynamics, Tsukuba Advanced Research Alliance (TARA), University of Tsukuba, Tsukuba, Japan.
Hitoshi HorigomeDepartment of Child Health, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.ORCID 0000-0002-6090-7531
Lisheng LinDepartment of Pediatric Cardiology, Ibaraki Children's Hospital, Mito, Japan.
Takashi MurakamiDepartment of Child Health, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan.
Junko ShionoDepartment of Pediatric Cardiology, Ibaraki Children's Hospital, Mito, Japan.
Yoshito YamashiroLife Science Center for Survival Dynamics, Tsukuba Advanced Research Alliance (TARA), University of Tsukuba, Tsukuba, Japan.ORCID 0000-0002-3556-9585
Hiroyuki MatsuuraDepartment of Pediatrics, Toho University School of Medicine, Tokyo, Japan.
Hitoshi YodaDepartment of Neonatology, Toho University School of Medicine, Tokyo, Japan.
Hiromi YanagisawaLife Science Center for Survival Dynamics, Tsukuba Advanced Research Alliance (TARA), University of Tsukuba, Tsukuba, Japan.ORCID 0000-0002-7576-9186
University of Tsukuba · JPIbaraki Children's Hospital · JPToho University · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSupravalvular aortic stenosis (SVAS) is one of the congenital cardiovascular diseases characterized by stenosis of the aorta. The stenotic lesions occur anywhere above the aortic valve in the aortic tree as well as pulmonary arteries and eventually leads to circulatory failure. The disease gene has been identified on the elastin gene (ELN) and two types of SVAS have been categorized; a familial type and an isolated type with the de novo mutation.

methodsFluorescent In situ hybridization (FISH) analysis and gene sequencing were performed in a two-generation family in which severe form of SVAS was diagnosed.

resultsNone of the patients tested showed microdeletion of ELN, LIMK1, and D7S613. A novel nonsense mutation of ELN (c.160G>T (p.(Gly54*)), RNA not analyzed) was found in exon 3 in three members; two of them died suddenly due to rapid progression of SVAS with possible arrhythmia in early infancy. A point mutation in the 5' untranslated region, which was previously suggested to be associated with SVAS, did not co-segregate with the SVAS phenotype and found to be SNPs.

conclusionOur report shows a broad spectrum of clinical features in family members sharing the identical mutations, suggesting a potential contribution of modifier gene(s) or interactions with environmental factors.

Indexed as

Point MutationAdultAortic Stenosis, SupravalvularAsian PeopleElastinFamily HealthFemaleHumansInfant, NewbornIn Situ Hybridization, FluorescenceJapanMalePedigreeElastinELN protein, humanELNmodifier genepulmonary artery stenosissudden deathsupravalvular aortic stenosis

Identifiers

PMID31560829
PMCPMC6825854
OpenAlexW2976403433

What OpenQuestion holds

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Registered trials

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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.