Evidence map›Paper›PMID 33555497›Full record

ArticleMetabolic brain disease2021

A novel homozygous nonsense mutation in the CA2 gene (c.368G>A, p.W123X) linked to carbonic anhydrase II deficiency syndrome in a Chinese family.

Yan Yang, Nie Tang, Ying Zhu, Lei Zhang, Xu Cao, Limei Liu, Wei Xia, Pengqiu Li, Yi Yang

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In one paragraph

Article in Metabolic brain disease, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.4field-weighted citation impact, top 42% of its field
1 · What the graph read from it

What it found

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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

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3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 6 citations in OpenAlex.

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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.

Yan YangDepartment of Endocrinology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, No. 32 the west second section of the first ring road, Qingyang District, Chengdu, Sichuan, 610072, China.
Nie TangDepartment of Endocrinology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, No. 32 the west second section of the first ring road, Qingyang District, Chengdu, Sichuan, 610072, China.
Ying ZhuDepartment of Endocrinology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, No. 32 the west second section of the first ring road, Qingyang District, Chengdu, Sichuan, 610072, China.
Lei ZhangDepartment of Endocrinology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, No. 32 the west second section of the first ring road, Qingyang District, Chengdu, Sichuan, 610072, China.
Xu CaoDepartment of Endocrinology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, No. 32 the west second section of the first ring road, Qingyang District, Chengdu, Sichuan, 610072, China.
Limei LiuDepartment of Endocrinology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, No. 32 the west second section of the first ring road, Qingyang District, Chengdu, Sichuan, 610072, China.
Wei XiaDepartment of Endocrinology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, No. 32 the west second section of the first ring road, Qingyang District, Chengdu, Sichuan, 610072, China.
Pengqiu LiDepartment of Endocrinology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, No. 32 the west second section of the first ring road, Qingyang District, Chengdu, Sichuan, 610072, China.
Yi YangDepartment of Endocrinology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, No. 32 the west second section of the first ring road, Qingyang District, Chengdu, Sichuan, 610072, China. doctorsc@126.com.ORCID 0000-0002-8891-9315
University of Electronic Science and Technology of China · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCarbonic anhydrase II deficiency syndrome is an autosomal recessive osteopetrosis with renal tubular acidosis and cerebral calcifications. We tried to detect the causative mutation for carbonic anhydrase II deficiency syndrome in a five-generation Chinese family. MATERIALS AND

methodsGenomic DNA was extracted from whole blood of the proband, his grandmother, parents, aunt, uncle and sister. The exomes were sequenced by whole exon sequencing followed by genetic analysis and Sanger sequencing validation. Then, physical and chemical properties studies and structure analysis were performed on mutated protein. Finally, Minigene model of vector plasmids for wild type and mutant type was constructed and transfected into human embryonic kidney 293T cells to further explore the expression change of CA2 transcript and protein after mutation.

resultsSequencing and genetic analysis have revealed the homozygous nonsense mutation of CA2 gene (c.368G > A, p.W123X) in the exon 4 of chromosome 8 of the proband, while it was not found in his grandmother, parents, aunt, uncle and sister. Furthermore, Sanger sequencing in the proband and his parents validated the mutation. Properties and structure of mutated CA2 proteins changed after mutation, especially in change of protein modification and hindrance of zinc ions binding, which may lead to decreased protein expression level of CA2.

conclusionsWe found a new homozygous nonsense mutation in CA2 gene (c.368G > A, p.W123X), which may be valuable in the early diagnosis and therapy of carbonic anhydrase II deficiency syndrome.

Indexed as

HomozygoteAsian PeopleCarbonic Anhydrase IICarrier ProteinsCodon, NonsenseHEK293 CellsHumansMaleNerve Tissue ProteinsPedigreeProtein Structure, SecondaryYoung AdultCA2 protein, humanCarbonic Anhydrase IICarrier ProteinsCodon, NonsenseNerve Tissue ProteinsCA2Carbonic anhydrase II deficiency syndromeHomozygous nonsense mutationHuman embryonic kidney 293T cellsMinigene modelWhole exome sequencing

Identifiers

PMID33555497
OpenAlexW3127070816

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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.