ArticlePediatric research2020
Wolfram syndrome 1 in the Italian population: genotype-phenotype correlations.
Article in Pediatric research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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.
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.
Who cites it
22 citing papers in PubMed.
- Clinical and Genetic Characteristics of Patients with Early-Onset Diabetes Involving at Least Two Consecutive Generations: Whole-Exome Sequencing in Probands from 25 Pedigrees.Current medical science · 2025Article
- SID/SIEDP expert consensus on optimizing clinical strategies for early detection and management of wolfram syndrome.Journal of endocrinological investigation · 2025Review
- Diabetes Insipidus as an Early Clinical Indicator of Wolfram Syndrome Type 1: Evidence From a Symptom-Based Screening Approach.Pediatric diabetes · 2025Article
- Identification of a pathogenic founder variant in theFrontiers in pediatrics · 2025Article
- Diabetes mellitus and pregnancy in Wolfram syndrome type 1: a case report with review of clinical and pathophysiological aspects.Frontiers in medicine · 2025Article
- Topology ofPediatric diabetes · 2025Article
- Article
- Review
- Wolfram Syndrome Type I Case Report and Review-Focus on Early Diagnosis and Genetic Variants.Medicina (Kaunas, Lithuania) · 2024Review
- Insights from a Wolfram syndrome cohort: clinical and molecular findings from a specialized diabetes reference center.Archives of endocrinology and metabolism · 2024Article
- Wolfram Syndrome 1: A Pediatrician's and Pediatric Endocrinologist's Perspective.International journal of molecular sciences · 2023Review
- Paediatric Wolfram syndrome Type 1: should gonadal dysfunction be part of the diagnostic criteria?Frontiers in endocrinology · 2023Article
- Complex clinical manifestations and new insights in RNA sequencing of children with diabetes andFrontiers in endocrinology · 2023Article
- Comprehensive Genetic Analysis Unraveled the Missing Heritability in a Chinese Cohort With Wolfram Syndrome 1: Clinical and Genetic Findings.Investigative ophthalmology & visual science · 2022Article
- Wolfram Syndrome 1: From Genetics to Therapy.International journal of environmental research and public health · 2022Review
- Clinical Peculiarities in a Cohort of Patients with Wolfram Syndrome 1.International journal of environmental research and public health · 2022Article
- A Novel MissenseBioMed research international · 2022Article
- NGS in Hereditary Ataxia: When Rare Becomes Frequent.International journal of molecular sciences · 2021Article
- Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype-Phenotype Correlations.International journal of environmental research and public health · 2021Review
- Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation.Human molecular genetics · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesWe studied 45 patients with Wolfram syndrome 1 (WS1) to describe their clinical history and to search for possible genotype-phenotype correlations.
methodsClinical criteria contributing to WS1 diagnosis were analyzed. The patients were classified into three genotypic classes according to type of detected mutations.
resultsWS1 prevalence in Italy is 0.74/1,000,000. All four manifestations of DIDMOAD were found in 46.7% of patients. Differently combined WS1 clinical features were detected in 53.3% of patients. We found 35 WFS1 different mutations and a novel missense mutation, c.1523A>G. WS1 patients were homozygotes or compound heterozygotes for WFS1 mutations except for 2 heterozygote patients (4.5%). Each genotypic group exhibited a different age onset of DM, D, and DI but not of OA. Genotypic Group 2 patients manifested a lower number of clinical manifestations compared to Groups 1 and 3. Moreover, genotypic Group 1 patients tended to have a shorter survival time than the other groups. No differences were found regarding type of clinical pictures.
conclusionsOur study suggested that molecular WFS1 typing is a useful tool for early assessment of clinical history, follow-up, and prognosis of WS1.
Indexed as
Identifiers
31266054What OpenQuestion holds
Registered trials
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.