Wolfram syndrome 1 in the Italian population: genotype-phenotype correlations.
Adolescent
Adult
Child
Disease Progression
Female
Genetic Association Studies
Genetic Predisposition to Disease
Heterozygote
Homozygote
Humans
Italy
/ epidemiology
Male
Membrane Proteins
/ genetics
Middle Aged
Mutation, Missense
Phenotype
Prevalence
Prognosis
Wolfram Syndrome
/ diagnosis
Young Adult
Journal
Pediatric research
ISSN: 1530-0447
Titre abrégé: Pediatr Res
Pays: United States
ID NLM: 0100714
Informations de publication
Date de publication:
02 2020
02 2020
Historique:
received:
16
01
2019
accepted:
20
06
2019
revised:
14
05
2019
pubmed:
3
7
2019
medline:
26
2
2021
entrez:
3
7
2019
Statut:
ppublish
Résumé
We studied 45 patients with Wolfram syndrome 1 (WS1) to describe their clinical history and to search for possible genotype-phenotype correlations. Clinical criteria contributing to WS1 diagnosis were analyzed. The patients were classified into three genotypic classes according to type of detected mutations. WS1 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. Our study suggested that molecular WFS1 typing is a useful tool for early assessment of clinical history, follow-up, and prognosis of WS1.
Identifiants
pubmed: 31266054
doi: 10.1038/s41390-019-0487-4
pii: 10.1038/s41390-019-0487-4
doi:
Substances chimiques
Membrane Proteins
0
wolframin protein
0
Types de publication
Comparative Study
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
456-462Références
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