PMID:10888877

Citation	Avela, K, Lipsanen-Nyman, M, Idänheimo, N, Seemanová, E, Rosengren, S, Mäkelä, TP, Perheentupa, J, Chapelle, AD and Lehesjoki, AE (2000) Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism. Nat. Genet. 25:298-301
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.
Links	PubMed Online version:10.1038/77053
Keywords	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
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