Evidence map›Paper›PMID 38915441›Full record

ArticleClinical kidney journal2024

Compound heterozygous variants of ANKFY1 in a child with infantile-onset proteinuria and movement disorder.

Luyan Zhang, Xueqin Cheng, Chunli Wang, Wei Zhou, Bixia Zheng, Aihua Zhang

Abstract readCase Reports
In one paragraph

Article in Clinical kidney journal, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

6 authors.

Luyan ZhangDepartment of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu, China.ORCID https://orcid.org/0000-0002-1362-9380
Xueqin ChengDepartment of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu, China.
Chunli WangNanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu, China.
Wei ZhouNanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu, China.
Bixia ZhengNanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu, China.
Aihua ZhangDepartment of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The ANKFY1 gene encodes a protein that belongs to double zinc finger proteins involved in endocytosis. Only one family with steroid-resistant nephrotic syndrome has been reported carrying a homozygous variant in ANKFY1 so far. Here we describe the second case where a 13-year-old boy presented with infantile-onset proteinuria and movement disorder. Whole-exome sequencing showed compound heterozygous variants (NM_001330063.2: c.2753C>G; p.Ser918Ter, and c.3287-11_3287-10del) in ANKFY1.

Indexed as

ANKFY1movement disorderproteinuriawhole-exome sequencing

Identifiers

PMID38915441
PMCPMC11194482

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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.