A Novel Variant in the WRN Gene Detected in a Case of Early-Onset Severe Insulin Resistance Displaying Some but Not All Hallmarks of Progeroid Werner Syndrome.
Diabetes Care
; 47(5): 798-802, 2024 May 01.
Article
em En
| MEDLINE
| ID: mdl-38277397
ABSTRACT
OBJECTIVE:
Determining the cause of severe insulin resistance and early-onset diabetes in the case of a young woman in which a wide range of differential diagnoses did not apply. RESEARCH DESIGN ANDMETHODS:
Diagnostic workup including medical history, physical examination, specialist consultations, imaging methods, laboratory assessment, and genetic testing carried out by next-generation panel sequencing.RESULTS:
After ruling out several differential diagnoses, genetic testing revealed a previously unknown homozygous variant within the canonical splice site of intron 4 in the WRN gene classified as pathogenic. Thus, although not all cardinal clinical criteria according to existing guidelines had been met, the phenotype of our patient was attributed to Werner syndrome (WS), an autosomal-recessive inherited progeroid syndrome.CONCLUSIONS:
WS, although rare, must be considered as a differential diagnosis in cases of severe insulin resistance. Moreover, recognized clinical criteria of WS may not lead to diagnosis in all cases.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Werner
/
Resistência à Insulina
Tipo de estudo:
Guideline
Limite:
Female
/
Humans
Idioma:
En
Revista:
Diabetes Care
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Alemanha