Single-nucleotide polymorphisms of the nuclear lamina proteome

  title={Single-nucleotide polymorphisms of the nuclear lamina proteome},
  author={Robert A Hegele and Jasper Yuen and Henian Cao},
  journal={Journal of Human Genetics},
AbstractFamilial partial lipodystrophy (FPLD) has been shown to be due to mutations in the LMNA gene encoding nuclear lamins A and C, indicating that defective structure of the nuclear envelope can produce this unique pheno-type. Some patients with inherited partial lipodystrophy have normal LMNA coding, promoter, and 3′-untranslated region sequences. This suggests that the FPLD phenotype is genetically heterogeneous. Among the candidate genes to consider for the non-LMNA-associated forms of… CONTINUE READING