Werner syndrome presenting as early-onset diabetes: A case report

Area of Science:

• Genetics and Molecular Biology
• Endocrinology
• Gerontology

Background:

• Werner syndrome (WS) is a rare autosomal recessive premature progeroid syndrome.
• It results from mutations in the WRN gene and causes early onset of age-related diseases.
• Common manifestations include cataracts, atherosclerosis, diabetes mellitus, osteoporosis, and malignancies, with diabetes typically appearing in the 30s-40s.

Observation:

• A Chinese patient presented with uncommonly early-onset diabetes at 18 years of age.
• The patient exhibited a low body mass index, insulin resistance, negative diabetes autoantibodies, and early-onset cataracts.
• Clinical presentation suggested a premature aging phenotype.

Findings:

• Genome sequencing and reverse transcription polymerase chain reaction confirmed the diagnosis of Werner syndrome.
• A novel heterozygous splice-site mutation (c.1270-2A>T) in the WRN gene was identified in the patient.
• This mutation is linked to the patient's atypical presentation.

Implications:

• This case underscores the importance of recognizing Werner syndrome in young patients diagnosed with diabetes.
• Clinicians should consider screening for Werner syndrome in individuals with early-onset diabetes and signs of premature aging.
• Early diagnosis of Werner syndrome can facilitate timely management of associated health complications.