Journal Article

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

Liu, Siruo, Wang, Xiaoli, Qin, Fengye, Wang, Qiuyue, Liu, Qian

2022

Overview

Werner syndrome is a rare autosomal recessive premature progeroid syndrome caused by mutations in the WRN gene. It is characterized by early onset of age‐related diseases, such as cataracts, atherosclerosis, diabetes mellitus, osteoporosis and malignancies, in which diabetes often onset in patients’ 30–40s. Herein, we report a Chinese patient with Werner syndrome with uncommon early‐onset diabetes at 18 years‐of‐age, who had low body mass index, insulin resistance, negative antibodies of diabetes and early onset of cataracts. Genome sequencing and reverse transcription polymerase chain reaction confirm the diagnosis. A novel heterozygous splice‐site mutation in the WRN gene (c.1270‐2A>T) was identified. The present case reminds clinicians that when young diabetes patients are encountered, if they are accompanied by premature aging, attention should be paid to identifying the possibility of Werner syndrome based on diagnostic criteria. We report a Chinese patient with Werner syndrome with uncommon early‐onset diabetes at age 18 years, who had low body mass index, insulin resistance, negative antibodies of diabetes and early onset of cataracts. Genome sequencing and reverse transcription polymerase chain reaction confirm the diagnosis. The present case reminds clinicians that when young type 2 diabetes patients are encountered, if they are accompanied by premature aging, attention should be paid to identifying the possibility of Werner syndrome based on diagnostic criteria.

• Publisher: John Wiley & Sons, Inc,John Wiley and Sons Inc,Wiley
• Subject: Age / Aging / Arteriosclerosis / Body mass index / Case Report / Case reports / Cataracts / Cholesterol / Deoxyribonucleic acid / Dermatology / Diabetes / Diabetes mellitus / Diabetes Mellitus - diagnosis / Diabetes Mellitus - genetics / DNA / Endocrinology / Females / Genes / Genomes / Hemoglobin / Heterozygote / High density lipoprotein / Humans / Insulin / Insulin Resistance / Laboratories / Mutation / Orthopedics / Osteoporosis / Polymerase chain reaction / Reverse transcription / Skin / Ultrasonic imaging / Werner syndrome / Werner Syndrome - complications / Werner Syndrome - diagnosis / Werner Syndrome - genetics / Werner Syndrome Helicase - genetics / Werner's syndrome / Whole genome sequencing / WRN gene