Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation.
Lipodystrophies are a group of heterogeneous disorders characterized by the loss of adipose tissue and metabolic complications. The main familial forms of lipodystrophy are Congenital Generalized Lipodystrophy and Familial Partial Lipodystrophy (FPLD). FPLD may result from mutations in the LMNA gene. Besides FPLD, mutations in LMNA have been shown to be responsible for other inherited diseases called laminopathies. Here we describe the case of a 15-year-old girl who was referred to our service due to diabetes mellitus and severe hypertriglyceridemia. Physical examination revealed generalized loss of subcutaneous fat, confirmed by DEXA (total body fat 8.6%). As the patient presented with pubertal-onset of generalized lipodystrophy and insulin resistance, molecular analysis of the LMNA gene was performed. We identified a heterozygous substitution in exon 1 (c.29C>T) predicting a p.T10I mutation. In summary, we describe an atypical phenotype of lipodistrophy associated with a de novo appearance of the p.T10I mutation in LMNA gene.
Mory
Patricia B
PB
Escola Paulista de Medicina, Universidade Federal de São Paulo, SP, Brasil.
Crispim
Felipe
F
Kasamatsu
Teresa
T
Gabbay
Monica A L
MA
Dib
Sergio A
SA
Moisés
Regina S
RS
D000293:Adolescent; D000595:Amino Acid Sequence; D005260:Female; D006579:Heterozygote; D006801:Humans; D007333:Insulin Resistance / Q000235:genetics*; D034904:Lamin Type A / Q000235:genetics*; D008060:Lipodystrophy / Q000145:classification / Q000235:genetics* / Q000473:pathology; D052497:Lipodystrophy, Congenital Generalized; D009154:Mutation / Q000235:genetics*; D010641:Phenotype
C494847:LMNA protein, human; D034904:Lamin Type A