MULIBREY NANISM Characterization of Hypogonadism, Infertility and Tumors

Helsinki University Biomedical Dissertations No.81 CHARACTERIZATION OF THE TRIM37 GENE AND MUTATIONS UNDERLYING MULIBREY NANISM

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Mulibrey Nanism in a 35 Year-Old Iranian Female with Constrictive Pericarditis

Mulibrey nanism is a rare autosomal recessive disorder characterized by severe growth retardation and pericardial constriction associated with muscle, liver, brain, and eye abnormalities. More than 80% of previously reported cases are Finnish. We report a 35-year-old Iranian female who presented with classic phenotypic features of Mulibrey nanism with symptomatic constrictive pericarditis and u...

Trim37-deficient mice recapitulate several features of the multi-organ disorder Mulibrey nanism

Mulibrey nanism (MUL) is a rare autosomal recessive multi-organ disorder characterized by severe prenatal-onset growth failure, infertility, cardiopathy, risk for tumors, fatty liver, and type 2 diabetes. MUL is caused by loss-of-function mutations in TRIM37, which encodes an E3 ubiquitin ligase belonging to the tripartite motif (TRIM) protein family and having both peroxisomal and nuclear loca...

Report of two Syrian siblings with Mulibrey nanism

Mulibrey (MUscle-LIver-BRain-EYe) nanism is a rare autosomal recessive disease characterized by growth failure, dysmorphic features and a wide range of abnormalities affecting multiple organ systems. This report is the first to present two cases of Mulibrey nanism affecting two siblings from Syria. Mulibrey nanism can be suspected clinically due to the distinctive features of the patients. The ...

Positional Cloning of the Mulibrey Nanism Gene (mul)