Where genetics and pathology meet: mulibrey nanism.
Mulibrey nanism is a rare autosomal recessive disorder with prenatal onset growth retardation (nanism) and dysmorphic features, including a wide range of abnormalities, such as cardiac disease (pericardial constriction, myocardial hypertrophy and fibrosis) and anomalies of muscle, liver, brain and eye, resulting in the acronym 'mulibrey'. This commentary summarizes recent analysis of the diverse pathologies seen in this syndrome and highlights the need for pathologists and geneticists to work together. Insights into the pathology of rare genetic syndromes may have important lessons for our understanding of much commoner conditions.
Hes
Frederik J
FJ
Centre for Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands. f.j.hes@lumc.nl
Morreau
Hans
H
D001921:Brain / Q000473:pathology; D005123:Eye / Q000473:pathology; D005808:Genes, Recessive; D006801:Humans; D008099:Liver / Q000473:pathology; D050336:Mulibrey Nanism / Q000235:genetics* / Q000473:pathology*; D009132:Muscles / Q000473:pathology; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics; D000070584:Tripartite Motif Proteins; D044767:Ubiquitin-Protein Ligases
D009687:Nuclear Proteins; D000070584:Tripartite Motif Proteins; C411745:TRIM37 protein, human; D044767:Ubiquitin-Protein Ligases