Evidence map›Paper›PMID 34085718›Full record

ArticleJournal of clinical laboratory analysis2021

Segmental maternal uniparental disomy of chromosome 7q in a patient with congenital chloride diarrhea.

Juanjuan Lyu, Zhuo Huang, Hongbo Chen, Xiaomei Sun, Ying Liu, Chuanjie Yuan, Li Ye, Dan Yu, Jin Wu

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

Article in Journal of clinical laboratory analysis, 2021. 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 41% 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, 1 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 1 institution in 1 country.

Juanjuan LyuDepartment of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.ORCID https://orcid.org/0000-0002-8855-0669
Zhuo HuangDepartment of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.
Hongbo ChenDepartment of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.
Xiaomei SunDepartment of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.
Ying LiuDepartment of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.
Chuanjie YuanDepartment of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.
Li YeDepartment of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.
Dan YuDepartment of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.
Jin WuDepartment of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.
Sichuan University · CN

Funding

National Natural Science Foundation of China 81601664Sichuan Science and Technology Program 2018JY0590Sichuan Science and Technology Program 2021YFS0097Youth Research Project of Sichuan Medical Association 2019Q19017
6 · The paper itself

Abstract

backgroundThe main symptoms of congenital chloride diarrhea (CCD) main symptoms are watery diarrhea, hypochloremia, and hypokalemic metabolic alkalosis. Silver-Russell syndrome (SRS) is a heterogeneous imprinting disorder characterized by severe intrauterine retardation, poor postnatal growth, and facial dysmorphism.

methodsParent-offspring trio whole-exome sequencing was used to identify the causal variants. Sequencing reads were mapped to the reference of human genome version hg19. Sanger sequencing was performed as a confirmatory experiment.

resultsThe proband was a patient with SRS caused by maternal uniparental disomy 7. The CCD of the proband was caused by homozygous variant c.1515-1 (IVS13) G>A; both mutated alleles were inherited from her mother.

conclusionWe report the first clinical case of CCD and SRS occurring together. Patients with milder phenotypes may be difficult to diagnose in early stage, but close monitoring of potential complications is important for identification.

Indexed as

Base SequenceChloride-Bicarbonate AntiportersChromosomes, Human, Pair 7DiarrheaFemaleHumansInfant, NewbornMaleMetabolism, Inborn ErrorsPedigreeSilver-Russell SyndromeSulfate TransportersUniparental DisomyChloride-Bicarbonate AntiportersSLC26A3 protein, humanSulfate TransportersCongenital chloride diarrheamUPDSilver-Russell syndromeSLC26A3

Identifiers

PMID34085718
PMCPMC8274990
OpenAlexW3164115310

What OpenQuestion holds

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LicenceCC BY
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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.