Abstract
Mulibrey nanism (MUscle-LIver-BRain-EYe nanism, MIM 253250) is an autosomal recessive disorder with severe prenatal-onset growth failure and multi-organ manifestations including cardiovascular, hepatic, endocrine, skeletal and opthalmologic abnormalities (Perheentupa et al, 1973; Lipsanen-Nyman, 1986; Lapunzina et al., 1995). Mulibrey nanism occurs worldwide, and some 100 patients have been identified of whom more than 80 are Finnish. Mutations in the TRIM37 gene (previously designated MUL) underlie mulibrey nanism (Avela et al., 2000). The TRIM37 gene product localizes to peroxisomes in cultured cells, which suggests that mulibrey nanism can be classified as a novel peroxisomal disorder (Kallijärvi et al., 2002). The fact that mulibrey nanism shares symptoms with known peroxisomal disorders supports the molecular evidence. Here, we discuss the clinical features of the disorder, as well as the current knowledge on the TRIM37 gene, its mutations and the protein it encodes.
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KallijÄrvi, J., Lehesjoki, AE., Lipsanen-Nyman, M. (2003). Mulibrey Nanism - a Novel Peroxisomal Disorder. In: Roels, F., Baes, M., De Bie, S. (eds) Peroxisomal Disorders and Regulation of Genes. Advances in Experimental Medicine and Biology, vol 544. Springer, Boston, MA. https://doi.org/10.1007/978-1-4419-9072-3_3
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DOI: https://doi.org/10.1007/978-1-4419-9072-3_3
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