Evidence map›Paper›PMID 26709266›Full record

ArticleAnnals of laboratory medicine2016

A Novel Syntaxin 11 Gene (STX11) Mutation c.650T>C, p.Leu217Pro, in a Korean Child With Familial Hemophagocytic Lymphohistiocytosis.

Ardak K Sultanova, Seong-koo Kim, Jae Wook Lee, Pil-Sang Jang, Nack-Gyun Chung, Bin Cho, Joonhong Park, Yonggoo Kim, Myungshin Kim

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In one paragraph

Article in Annals of laboratory medicine, 2016. 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
0.2field-weighted citation impact, top 40% 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

1 citing paper in PubMed, 3 citations in OpenAlex.

  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

9 authors at 3 institutions in 2 countries.

Ardak K SultanovaDepartment of Pediatrics, National Research Center for Maternal and Child Health, Astana, Kazakhstan.
Seong-koo KimDepartment of Pediatrics, The Catholic University of Korea, Seoul, Korea.
Jae Wook LeeDepartment of Pediatrics, The Catholic University of Korea, Seoul, Korea.
Pil-Sang JangDepartment of Pediatrics, The Catholic University of Korea, Seoul, Korea.
Nack-Gyun ChungDepartment of Pediatrics, The Catholic University of Korea, Seoul, Korea.
Bin ChoDepartment of Pediatrics, The Catholic University of Korea, Seoul, Korea.
Joonhong ParkDepartment of Laboratory Medicine, The Catholic University of Korea, Seoul, Korea.
Yonggoo KimDepartment of Laboratory Medicine, The Catholic University of Korea, Seoul, Korea.
Myungshin KimDepartment of Laboratory Medicine, The Catholic University of Korea, Seoul, Korea.
Catholic University of Korea · KRNational Research Center for Maternal and Child Health · KZSeoul St. Mary's Hospital · KR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report the first Far Eastern case of a Korean child with familial hemophagocytic lymphohistiocytosis (HLH) caused by a novel syntaxin 11 (STX11) mutation. A 33-month-old boy born to non-consanguineous Korean parents was admitted for intermittent fever lasting one week, pancytopenia, hepatosplenomegaly, and HLH in the bone marrow. Under the impression of HLH, genetic study revealed a novel homozygous missense mutation of STX11: c.650T>C, p.Leu217Pro. Although no large deletion or allele drop was identified, genotype analysis demonstrated that the homozygous c.650T>C may have resulted from the duplication of a maternal (unimaternal) chromosomal region and concurrent loss of the other paternal allele, likely caused by meiotic errors such as two crossover events. A cumulative study of such novel mutations and their effects on specific protein interactions may deepen the understanding of how abnormal STX1 expression results in deficient cytotoxic function.

Indexed as

AllelesAmino Acid SequenceAsian PeopleBase SequenceBone MarrowChild, PreschoolComparative Genomic HybridizationDNA Mutational AnalysisGenotypeHaplotypesHomozygoteHumansLymphohistiocytosis, HemophagocyticMaleMolecular Sequence DataMutation, MissenseQa-SNARE ProteinsSTX11 protein, humanHemophagocytic lymphohistiocytosisKoreanMutationSyntaxin 11

Identifiers

PMID26709266
PMCPMC4713852
OpenAlexW2292888640

What OpenQuestion holds

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LicenceCC BY-NC
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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 OpenQuestion graph.