Evidence map›Paper›PMID 31949866›Full record

ArticleInternational journal of clinical and experimental pathology2018

Novel deletion mutation in a Chinese family with X-linked alport syndrome.

Yongzhen Li, Qingnan He, Yanran Wang, Ying Wang, Xiqiang Dang, Xiaochuan Wu, Xiaoyan Li, Lanjun Shuai, Zhuwen Yi

Open access · greenAbstract read
PubMed Full text at PMC
In one paragraph

Article in International journal of clinical and experimental pathology, 2018. 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 45% 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. Novel Mutations ofBioMed research international · 2021
    Review
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.

Yongzhen LiDepartment of Pediatrics, The Second Xiangya Hospital, Central South University Changsha, Hunan, P. R. China.
Qingnan HeDepartment of Pediatrics, The Second Xiangya Hospital, Central South University Changsha, Hunan, P. R. China.
Yanran WangDepartment of Pediatrics, The Second Xiangya Hospital, Central South University Changsha, Hunan, P. R. China.
Ying WangDepartment of Pediatrics, The Second Xiangya Hospital, Central South University Changsha, Hunan, P. R. China.
Xiqiang DangDepartment of Pediatrics, The Second Xiangya Hospital, Central South University Changsha, Hunan, P. R. China.
Xiaochuan WuDepartment of Pediatrics, The Second Xiangya Hospital, Central South University Changsha, Hunan, P. R. China.
Xiaoyan LiDepartment of Pediatrics, The Second Xiangya Hospital, Central South University Changsha, Hunan, P. R. China.
Lanjun ShuaiDepartment of Pediatrics, The Second Xiangya Hospital, Central South University Changsha, Hunan, P. R. China.
Zhuwen YiDepartment of Pediatrics, The Second Xiangya Hospital, Central South University Changsha, Hunan, P. R. China.
Central South University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUNDS AND

objectivesalport syndrome (AS) is a progressive hereditary condition that is characterized by haematuria, proteinuria, progressive renal impairment, and end stage kidney disease (ESRD). Approximately 85% of AS patients have X-linked mutations in the COL4A5 gene that encodes type IV collagen. The aim of our study was to identify the gene responsible for glomerulopathy in a 3-generation Chinese pedigree with familial haematuria.

methodsWe examined five members of a Chinese family clinically suspected of X-linked AS caused by COL4A5 gene mutations. All 51 exons of the COL4A5 gene were screened by direct DNA sequencing.

resultsWe identified the novel deletion mutation c. 3990_4016delCCC…TCC in COL4A5 in three affected individuals with haematuria, but the mutation was absent in the other 2 healthy family members and 100 unrelated healthy controls.

conclusionsOur result demonstrates that the mutation is pathogenic and novel and has meaningful implications for the diagnosis and genetic counselling of cases with AS. The results in the study broaden the genotypic spectrum of known mutations for AS.

Indexed as

Alport syndromechildCOL4A5haematuria

Identifiers

PMID31949866
PMCPMC6962970
OpenAlexW3027483401

What OpenQuestion holds

Textmetadata
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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.