Evidence map›Paper›PMID 38433930›Full record

ArticleMolecular genetics and metabolism reports2024

Congenital disorder of glycosylation type Ia in a Chinese family: Function analysis of a novel

Dan Zhong, Xiujuan Huang, Taoshan Feng, Jieqing Zeng, Shanshan Gu, Fan Ning, Yue Yang, Jinyuan Zhu, Yajun Wang, Riling Chen and 1 more

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

Article in Molecular genetics and metabolism reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact, top 98% 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

2 citing papers in PubMed, 0 citations in OpenAlex.

  1. Article
  2. 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

11 authors at 3 institutions in 1 country.

Dan ZhongMaternal and Children's Health Research Institute, Shunde Women and Children's Hospital, Guangdong Medical University, Foshan 528300, China.
Xiujuan HuangDepartment of Child Healthcare, Shunde Women and Children's Hospital, Guangdong Medical University, Foshan 528300, China.
Taoshan FengMaternal and Children's Health Research Institute, Shunde Women and Children's Hospital, Guangdong Medical University, Foshan 528300, China.
Jieqing ZengMaternal and Children's Health Research Institute, Shunde Women and Children's Hospital, Guangdong Medical University, Foshan 528300, China.
Shanshan GuMaternal and Children's Health Research Institute, Shunde Women and Children's Hospital, Guangdong Medical University, Foshan 528300, China.
Fan NingMaternal and Children's Health Research Institute, Shunde Women and Children's Hospital, Guangdong Medical University, Foshan 528300, China.
Yue YangDepartment of Child Healthcare, Shunde Women and Children's Hospital, Guangdong Medical University, Foshan 528300, China.
Jinyuan ZhuDepartment of Child Healthcare, Shunde Women and Children's Hospital, Guangdong Medical University, Foshan 528300, China.
Yajun WangInstitute of Respiratory, Shunde Women and Children's Hospital, Guangdong Medical University, Foshan 528300, China.
Riling ChenMaternal and Children's Health Research Institute, Shunde Women and Children's Hospital, Guangdong Medical University, Foshan 528300, China.
Guoda MaMaternal and Children's Health Research Institute, Shunde Women and Children's Hospital, Guangdong Medical University, Foshan 528300, China.
Guangdong Medical College · CNFoshan Maternity and Child Health Care Hospital · CNThe First People's Hospital of Shunde · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital disorder of glycosylation type Ia (CDG-Ia) is an autosomal recessive genetic disease caused by a mutation in the phosphomannomutase 2 (PMM2) gene. We have identified a 13-month-old boy who has been diagnosed with CDG-Ia. He displays several characteristic symptoms, including cerebellar hypoplasia, severe developmental retardation, hypothyroidism, impaired liver function, and abnormal serum ferritin levels. Through whole-exome sequencing, we discovered novel complex heterozygous mutations in the PMM2 gene, specifically the c.663C > G (p.F221L) mutation and loss of exon 2. Further analysis revealed that the enzymatic activity of the mutant PMM2 protein was significantly reduced by 44.97% (

Indexed as

Cerebellar dysplasiaCongenital disorder of glycosylation type IaLiver injuryPhosphomannomutase 2

Identifiers

PMID38433930
PMCPMC10905039
OpenAlexW4392130390

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

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.