Affiliation:
1. Department of Emergency First Affiliated Hospital of Nanchang University Nanchang China
2. Department of Endocrinology and Metabolism First Affiliated Hospital of Nanchang University Nanchang China
3. Jiangxi Clinical Research Center for Endocrine and Metabolic Disease Nanchang China
4. Jiangxi Branch of National Clinical Research Center for Metabolic Disease Nanchang China
Abstract
AbstractThe term laminopathies refers to a group of congenital diseases characterized by accelerated degeneration of human tissues. Mutations in LMNA, LMNB, ZMPSTE24, and other genes lead to structural and functional abnormalities associated with lamins. One subtype of laminopathy is the generalized lipodystrophy‐associated progeroid syndrome (GLPS), which occurs in patients with heterozygous mutations of the LMNA gene c.29C>T(p.T10I). This paper reports the first case of GLPS in China and compares the clinical features of other GLPS patients with literature reports. A 16‐year‐old male patient was treated for diabetic ketoacidosis, presenting with premature aging appearance, systemic lipodystrophy, severe fatty liver, and decreased bone density. After peripheral blood DNA extraction and second‐generation sequencing, a heterozygous mutation of exon 1 of the LMNA gene c.29C>T(p.T10I) was detected. This case of GLPS may provide a diagnostic and therapeutic basis for potential patients.
Subject
General Medicine,Endocrinology, Diabetes and Metabolism,Internal Medicine