Wolfram syndrome 1, a rare autosomal recessive neurodegenerative disease, is caused by mutations in the WFS1 gene. It is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD), and other clinical manifestations such as urological and neurological disorders. Here we described the case of a patient with an atypical late-onset Wolfram syndrome 1 without DI. Our WS1 patient was a c.1620_1622delGTG (p.Trp540del)/c.124 C > T (p.Arg42*) heterozygous compound. The p.Arg42* nonsense mutation was also found in heterozygosity in his sister and niece, both suffering from psychiatric disorders. The p.Arg42* nonsense mutation has never been found in WS1 and its pathogenicity is unclear so far. Our study underlined the need to study a greater number of WS1 cases in order to better understand the clinical significance of many WFS1 variants.

An Atypical Case of Late-Onset Wolfram Syndrome 1 without Diabetes Insipidus

Rigoli, Luciana
Primo
Writing – Review & Editing
;
Salzano, Giuseppina
Writing – Original Draft Preparation
;
Lombardo, Fortunato
Writing – Original Draft Preparation
;
2022-01-01

Abstract

Wolfram syndrome 1, a rare autosomal recessive neurodegenerative disease, is caused by mutations in the WFS1 gene. It is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD), and other clinical manifestations such as urological and neurological disorders. Here we described the case of a patient with an atypical late-onset Wolfram syndrome 1 without DI. Our WS1 patient was a c.1620_1622delGTG (p.Trp540del)/c.124 C > T (p.Arg42*) heterozygous compound. The p.Arg42* nonsense mutation was also found in heterozygosity in his sister and niece, both suffering from psychiatric disorders. The p.Arg42* nonsense mutation has never been found in WS1 and its pathogenicity is unclear so far. Our study underlined the need to study a greater number of WS1 cases in order to better understand the clinical significance of many WFS1 variants.
2022
File in questo prodotto:
File Dimensione Formato  
ijerph-19-02473.pdf

accesso aperto

Descrizione: An Atypical Case of Late-Onset Wolfram Syndrome 1 without Diabetes Insipidus. Rigoli L, Caruso V, Aloi C, Salina A, Maghnie M, d'Annunzio G, Lamacchia O, Salzano G, Lombardo F, Picca G. Int J Environ Res Public Health. 2022 Feb 21;19(4):2473. doi: 10.3390/ijerph19042473. PMID: 35206658
Tipologia: Versione Editoriale (PDF)
Licenza: Creative commons
Dimensione 599.5 kB
Formato Adobe PDF
599.5 kB Adobe PDF Visualizza/Apri
Pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11570/3240234
Citazioni
  • ???jsp.display-item.citation.pmc??? 2
  • Scopus 2
  • ???jsp.display-item.citation.isi??? 2
social impact