Evidence map›Paper›PMID 33460241›Full record

ArticleMolecular genetics & genomic medicine2020

Increased hydrophobicity of CRYGD p.(Ala159ProfsTer9): Suspected cause of congenital cataracts in a large Chinese family.

Meina Lin, Ying Jin, Xinren Chen, Yu Sui, Yan Li, Huan Li, Xiang Ni, Ning Zhao, Yongping Lu, Miao Jiang

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

Article in Molecular genetics & genomic medicine, 2020. 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
0.1field-weighted citation impact, top 55% 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, 2 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

10 authors at 1 institution in 1 country.

Meina LinNHC Key Laboratory of Reproductive Health and Medical Genetics, Liaoning Research Institute of Family Planning, The Affiliated Reproductive Hospital of China Medical University, Shenyang, China.ORCID 0000-0002-4567-3765
Ying JinNHC Key Laboratory of Reproductive Health and Medical Genetics, Liaoning Research Institute of Family Planning, The Affiliated Reproductive Hospital of China Medical University, Shenyang, China.
Xinren ChenNHC Key Laboratory of Reproductive Health and Medical Genetics, Liaoning Research Institute of Family Planning, The Affiliated Reproductive Hospital of China Medical University, Shenyang, China.
Yu SuiNHC Key Laboratory of Reproductive Health and Medical Genetics, Liaoning Research Institute of Family Planning, The Affiliated Reproductive Hospital of China Medical University, Shenyang, China.
Yan LiNHC Key Laboratory of Reproductive Health and Medical Genetics, Liaoning Research Institute of Family Planning, The Affiliated Reproductive Hospital of China Medical University, Shenyang, China.
Huan LiNHC Key Laboratory of Reproductive Health and Medical Genetics, Liaoning Research Institute of Family Planning, The Affiliated Reproductive Hospital of China Medical University, Shenyang, China.
Xiang NiNHC Key Laboratory of Reproductive Health and Medical Genetics, Liaoning Research Institute of Family Planning, The Affiliated Reproductive Hospital of China Medical University, Shenyang, China.
Ning ZhaoNHC Key Laboratory of Reproductive Health and Medical Genetics, Liaoning Research Institute of Family Planning, The Affiliated Reproductive Hospital of China Medical University, Shenyang, China.
Yongping LuNHC Key Laboratory of Reproductive Health and Medical Genetics, Liaoning Research Institute of Family Planning, The Affiliated Reproductive Hospital of China Medical University, Shenyang, China.
Miao JiangNHC Key Laboratory of Reproductive Health and Medical Genetics, Liaoning Research Institute of Family Planning, The Affiliated Reproductive Hospital of China Medical University, Shenyang, China.
China Medical University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveThis study aimed to identify the disease-causing mutation of congenital cataract disease in a large northeastern Chinese family. MATERIALS AND

methodsThe subjects' peripheral blood was collected, their genomic DNA was extracted, mutation screening of candidate genes was performed using polymerase chain reaction, and the amplified products were sequenced. Recombinant C-terminal enhanced green fluorescent protein-tagged wild-type or mutant CRYGD was expressed in HEK293T cells, and the expression pattern was observed under a fluorescence microscope. The CRYGD protein mutation was analyzed via bioinformatics analysis.

resultsc.475delG, a novel frameshift mutation in CRYGD, was identified in the affected family members. This mutation causes premature termination of the polypeptide, resulting in truncated p.(Ala159ProfsTer9). According to the bioinformatics analysis results, compared with wild-type CRYGD, p.(Ala159ProfsTer9) exhibits significantly decreased hydrophilicity. Fluorescence microscopy revealed that p.(Ala159ProfsTer9) aggregates in the cell in the form of granular deposits.

conclusionIn this study, the novel frameshift mutation c.475delG, p.(Ala159ProfsTer9) in CRYGD was identified to cause congenital cataracts in a large Chinese family; increased hydrophobicity of p.(Ala159ProfsTer9) protein may be the underlying mechanism.

Indexed as

Frameshift MutationCataractFemalegamma-CrystallinsHEK293 CellsHumansHydrophobic and Hydrophilic InteractionsMaleMiddle AgedPedigreeProtein DomainsProtein TransportCRYGD protein, humangamma-Crystallinsbioinformatics analysisc.475delG mutationcongenital cataractCRYGDhydrophobicityp.(Ala159ProfsTer9)

Identifiers

PMID33460241
PMCPMC7549552
OpenAlexW3043879773

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.