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Mulibrey nanism (MUL)

Genes

  • Tripartite motif containing 37 (TRIM37)

Summary

Mulibrey nanism (MUscle-LIver-BRain-EYe nanism) is a rare growth disorder characterized by prenatal-onset growth failure, constrictive cardiopathy, hepatomegaly, muscle hypotonia, J-shaped sella turcica, yellowish dots in the retinal midperiphery, and typical appearance. Mulibrey nanism is inherited autosomally recessively. MUL is caused by mutations in the TRIM37 gene, which encodes a member of the RING-B-box-coiled-coil (RBCC) family of zinc finger proteins. TRIM37 has been shown to localize in the peroxisomes, and thus mulibrey nanism can be classified as a peroxisomal disorder. The pathogenetic mechanism in mulibrey nanism is yet unknown. Diagnosis of mulibrey nanism is based on the clinical findings and on mutation detection in the TRIM37 gene. Gene test also allows fetal diagnosis and carrier identification.

Links

UMLS Concept names

Selected publications

  • Avela K, Lipsanen-Nyman M, Idänheimo N, Seemanová E, Rosengren S, Mäkelä TP, Perheentupa J, Chapelle AD, Lehesjoki AE. Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism. Nat Genet. 2000 Jul;25(3):298-301. (Pubmed)
  • Karlberg N, Jalanko H, Perheentupa J, Lipsanen-Nyman M. Mulibrey nanism: clinical features and diagnostic criteria. J Med Genet. 2004 Feb;41(2):92-8. (Pubmed)