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

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...

Mulibrey nanism: clinical features and diagnostic criteria.

Mulibrey nanism (MUL) is an autosomal recessive disease caused by mutations in the TRIM37 gene encoding the peroxisomal TRIM37 protein of unknown function. In this work, we analysed the clinical characteristics of 85 Finnish patients with MUL, most of whom were homozygous for the Finn major mutation of TRIM37. The patients' hospital records from birth to the time of the diagnosis at age 0.02-52...

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

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Positional Cloning of the Mulibrey Nanism Gene (mul)

The cardiopathy of mulibrey nanism, a new inherited syndrome.

A syndrome characterized by prenatal-onset growth failure, muscular hypotonia, hepatomegaly, enlarged cerebral ventricles and cisternas, and distinctive changes in ocular fundi was first described1 in 1970. The condition was named mulibrey nanism to point out the organs most clearly involved : muscle, liver, brain, and eyes. With further cases being observed it became evident that more or less ...