All patients with biallelic pathogenic PLAAT3variants reported to date present with lipodystrophy syndrome characterized by various degrees of lipoatrophy (ranging from partial to generalized lipodystrophy) accompanied by metabolic complications including early-onset insulin resistant diabetes, hypertriglyceridemia and hepatic steatosis. Demyelinating peripheral neuropathy was present in all patients in which nerve conduction studies were performed. Developmental delay and intellectual disability were present in some but not all patients. Skeletal manifestations including kyphoscoliosis and foot deformity was present in a subset of the patients. Chronic pain in the lower limbs was present in the majority of patients. Male patients present with gynaecomastia. Dysmorphic facial features including a prominent nose and chin, low-set ears, deep-set eyes, low hair implantation were noticed in the majority of the patients.
PLAAT3