Evidence map›Paper›PMID 28105082›Full record

ArticleDiabetology & metabolic syndrome2017

Genetic diagnosis and treatment of a Chinese ketosis-prone MODY 3 family with depression.

Jun Tang, Chen-Yi Tang, Fang Wang, Yue Guo, Hao-Neng Tang, Ci-La Zhou, Shu-Wen Tan, Shi-Ping Liu, Zhi-Guang Zhou, Hou-De Zhou

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

Article in Diabetology & metabolic syndrome, 2017. 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
1.2field-weighted citation impact, top 21% 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

3 citing papers in PubMed, 7 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

10 authors at 1 institution in 1 country.

Jun TangDepartment of Metabolism and Endocrinology, National Clinical Research Center for Metabolic Disease, The Second Xiang-Ya Hospital of Central South University, 139 Middle Ren-Min Road, Changsha, China.
Chen-Yi TangDepartment of Metabolism and Endocrinology, National Clinical Research Center for Metabolic Disease, The Second Xiang-Ya Hospital of Central South University, 139 Middle Ren-Min Road, Changsha, China.
Fang WangDepartment of Metabolism and Endocrinology, National Clinical Research Center for Metabolic Disease, The Second Xiang-Ya Hospital of Central South University, 139 Middle Ren-Min Road, Changsha, China.
Yue GuoDepartment of Metabolism and Endocrinology, National Clinical Research Center for Metabolic Disease, The Second Xiang-Ya Hospital of Central South University, 139 Middle Ren-Min Road, Changsha, China.
Hao-Neng TangDepartment of Metabolism and Endocrinology, National Clinical Research Center for Metabolic Disease, The Second Xiang-Ya Hospital of Central South University, 139 Middle Ren-Min Road, Changsha, China.
Ci-La ZhouDepartment of Metabolism and Endocrinology, National Clinical Research Center for Metabolic Disease, The Second Xiang-Ya Hospital of Central South University, 139 Middle Ren-Min Road, Changsha, China.
Shu-Wen TanDepartment of Metabolism and Endocrinology, National Clinical Research Center for Metabolic Disease, The Second Xiang-Ya Hospital of Central South University, 139 Middle Ren-Min Road, Changsha, China.
Shi-Ping LiuDepartment of Metabolism and Endocrinology, National Clinical Research Center for Metabolic Disease, The Second Xiang-Ya Hospital of Central South University, 139 Middle Ren-Min Road, Changsha, China.
Zhi-Guang ZhouDepartment of Metabolism and Endocrinology, National Clinical Research Center for Metabolic Disease, The Second Xiang-Ya Hospital of Central South University, 139 Middle Ren-Min Road, Changsha, China.
Hou-De ZhouDepartment of Metabolism and Endocrinology, National Clinical Research Center for Metabolic Disease, The Second Xiang-Ya Hospital of Central South University, 139 Middle Ren-Min Road, Changsha, China.
Central South University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundTo analyze the gene mutation and mental disorder of a Chinese ketosis-prone diabetes (KPD) family, and to make a precise diagnosis and give a treatment for them.

methodsWe studied a Chinese family with a clinical diagnosis of maturity-onset diabetes of the young (MODY). The clinical data and the blood samples were collected. The promotor and coding regions inclusive intron exon boundaries of the HNF1A, HNF4A were detected by polymerase chain reaction (PCR) and direct sequencing. The missense mutation was also analyzed by bioinformatics. Genetic counseling was performed twice a month to relieve the mental disorder of the persons.

resultsThe missense mutation c.779 C>T (p.T260M) in exon4 of HNF1A gene was detected, and the symptom heterogenicity among persons in this family were found. All the members were retreated with Gliclazide and stopped to use other medicine, the blood glucose of them were well controlled. We also performed an active genetic counseling to them and the mental disorder of the proband's sister was relieved.

conclusionsA missense mutation of HNF1A gene was first found in Chinese ketosis-prone MODY family with manifestations heterogenicity among the persons. Sulphonylureas medicine and genetic counseling are efficiency ways to treat MODY 3 and its' mental disorder respectively.

Indexed as

HNF1AKetosis-prone diabetesMental healthMODY

Identifiers

PMID28105082
PMCPMC5240193
OpenAlexW2576323516

What OpenQuestion holds

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LicenceCC BY
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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.