Evidence map›Paper›PMID 31098941›Full record

ArticleDiabetes therapy : research, treatment and education of diabetes and related disorders2019

Maturity Onset Diabetes of the Young is Not Necessarily Associated with Autosomal Inheritance: Case Description of a De Novo HFN1A Mutation.

Giuseppina Salzano, Stefano Passanisi, Corrado Mammì, Manuela Priolo, Letizia Pintomalli, Lucia Caminiti, Maria F Messina, Giovanni B Pajno, Fortunato Lombardo

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

Article in Diabetes therapy : research, treatment and education of diabetes and related disorders, 2019. 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
0.7field-weighted citation impact, top 29% 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, 5 citations in OpenAlex.

  1. Article
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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.

Giuseppina SalzanoDepartment of Human Pathology in Adult and Developmental Age "Gaetano Barresi", University of Messina, Via Consolare Valeria 1, 98124, Messina, Italy.
Stefano PassanisiDepartment of Human Pathology in Adult and Developmental Age "Gaetano Barresi", University of Messina, Via Consolare Valeria 1, 98124, Messina, Italy. spassanisi@gmail.com.ORCID http://orcid.org/0000-0002-4369-7798
Corrado MammìGrande Ospedale Metropolitano, UOSD Genetica Medica, Reggio Calabria, Italy.
Manuela PrioloGrande Ospedale Metropolitano, UOSD Genetica Medica, Reggio Calabria, Italy.
Letizia PintomalliGrande Ospedale Metropolitano, UOSD Genetica Medica, Reggio Calabria, Italy.
Lucia CaminitiDepartment of Human Pathology in Adult and Developmental Age "Gaetano Barresi", University of Messina, Via Consolare Valeria 1, 98124, Messina, Italy.
Maria F MessinaDepartment of Human Pathology in Adult and Developmental Age "Gaetano Barresi", University of Messina, Via Consolare Valeria 1, 98124, Messina, Italy.
Giovanni B PajnoDepartment of Human Pathology in Adult and Developmental Age "Gaetano Barresi", University of Messina, Via Consolare Valeria 1, 98124, Messina, Italy.
Fortunato LombardoDepartment of Human Pathology in Adult and Developmental Age "Gaetano Barresi", University of Messina, Via Consolare Valeria 1, 98124, Messina, Italy.
University of Messina · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Maturity onset diabetes of the young (MODY) accounts for up to 4% of all cases of diabetes in pediatric patients. MODY is usually characterized by autosomal dominant inheritance, impaired insulin secretion, and an average age at diagnosis of 18-26 years. Mutations in the hepatocyte nuclear factor 1-alpha (HNF1A), glucokinase, hepatocyte nuclear factor 4-alpha, and hepatocyte nuclear factor 1-beta genes are the mutations most frequently observed in cases of MODY. We herein report a case of HNF1A-MODY characterized by an early onset of diabetes. Genetic investigations revealed a de novo heterozygous substitution, N237D (HNF1A c.709A>G), in exon 3 of the HNF1A gene. Our case supports the hypothesis that de novo mutations are more frequent than expected. This recent evidence may suggest that conventional clinical diagnostic criteria for MODY should be revised and personalized according to the individual patient.

Indexed as

Genetic testingHepatocyte nuclear factor 1-alphaHyperglycaemiaInheritanceMissense mutationMODYNext-generation sequencing

Identifiers

PMID31098941
PMCPMC6612332
OpenAlexW2944878920

What OpenQuestion holds

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LicenceCC BY-NC
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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.