Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism

Nat Genet. 2000 Jul;25(3):298-301. doi: 10.1038/77053.

Abstract

Mulibrey nanism (for muscle-liver-brain-eye nanism, MUL; MIM 253250) is an autosomal recessive disorder that involves several tissues of mesodermal origin, implying a defect in a highly pleiotropic gene. Characteristic features include severe growth failure of prenatal onset and constrictive pericardium with consequent hepatomegaly. In addition, muscle hypotonia, J-shaped sella turcica, yellowish dots in the ocular fundi, typical dysmorphic features and hypoplasia of various endocrine glands causing hormonal deficiency are common. About 4% of MUL patients develop Wilms' tumour. MUL is enriched in the Finnish population, but is rare elsewhere. We previously assigned MUL to chromosome 17q22-q23 and constructed a physical contig over the critical MUL region. The region has now been further refined by haplotype analysis and new positional candidate genes have been localized. We identified a gene with four independent MUL-associated mutations that all cause a frameshift and predict a truncated protein. MUL is ubiquitously expressed and encodes a new member of the RING-B-box-Coiled-coil (RBCC) family of zinc-finger proteins, whose members are involved in diverse cellular functions such as developmental patterning and oncogenesis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alternative Splicing
  • Animals
  • Base Sequence
  • Chromosome Mapping
  • Chromosomes, Human, Pair 17*
  • Codon, Terminator
  • DNA, Complementary
  • Dwarfism / genetics*
  • Frameshift Mutation*
  • Humans
  • Mice
  • Molecular Sequence Data
  • Nuclear Proteins / genetics*
  • Rats
  • Zinc Fingers*

Substances

  • Codon, Terminator
  • DNA, Complementary
  • Nuclear Proteins
  • TRIM37 protein, human

Associated data

  • GENBANK/AB014547
  • GENBANK/AB020705
  • GENBANK/AC005207
  • GENBANK/AC005666
  • GENBANK/AF029669
  • GENBANK/AF073312
  • GENBANK/Y18251