Key result
Novel homozygous LIPE mutation linked to familial multiple symmetric lipomatosis, partial lipodystrophy, and myopathy.
Why the study?
The molecular basis of some peculiar adipose tissue disorders, including multiple symmetric lipomatosis and partial lipodystrophy, remains obscure.
Case Report (n=2)
A novel homozygous null LIPE mutation was identified as the genetic basis for a rare syndrome of multiple symmetric lipomatosis, partial lipodystrophy, and myopathy.
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Associates homozygous LIPE null mutation with rare MSL-lipodystrophy-myopathy; leaves open replication in larger cohorts before diagnostic adoption.
Zolotov et al. (2016) conducted a case report in Multiple symmetric lipomatosis, partial lipodystrophy, and myopathy (n=2). Homozygous LIPE mutation was evaluated on Identification of disease-causing mutation. Exome sequencing identified a novel homozygous LIPE mutation (p.Glu1035*) as the cause of multiple symmetric lipomatosis, partial lipodystrophy, and myopathy in 2 affected siblings.
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