Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma

Eur J Hum Genet. 2001 Sep;9(9):690-4. doi: 10.1038/sj.ejhg.5200694.


Hereditary predisposition to lipomas is observed in familial multiple lipomatosis (OMIM 151900) and benign cervical lipomatosis (OMIM 151800) and can also be associated with mutations in the MEN1 and PTEN genes (OMIM 131100 and 153480, respectively). In addition, a recent report indicates that a few patients with hereditary retinoblastoma also have lipomas. Here we report on an extended family segregating a splice site mutation in the RB1 gene. Almost all adult carriers of this mutation had multiple lipomas while penetrance for retinoblastoma was incomplete. In an unrelated pedigree, which was reported previously, the identical mutation was only associated with low-penetrance retinoblastoma but not lipomas. Our data indicate that lipoma predisposition in hereditary retinoblastoma is not associated with specific RB1 gene mutations but is influenced by modifying factors linked to this gene.

MeSH terms

  • Base Sequence
  • Chromosome Mapping
  • Chromosomes, Human, Pair 13 / genetics
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Lipomatosis, Multiple Symmetrical / complications
  • Lipomatosis, Multiple Symmetrical / genetics*
  • Lod Score
  • Male
  • Mutation
  • Pedigree
  • Penetrance
  • Retinoblastoma / complications
  • Retinoblastoma / genetics*
  • Retinoblastoma Protein / genetics*


  • Retinoblastoma Protein
  • DNA

Associated data

  • OMIM/131100
  • OMIM/151800
  • OMIM/151900
  • OMIM/153480
  • OMIM/180200