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TRIM37 and Mulibrey Nanism 

TRIM37 and Mulibrey Nanism
Chapter:
TRIM37 and Mulibrey Nanism
Author(s):

Kaisa Kettunen

, Niklas Karlberg

, Susann Karlberg

, Hannu Jalanko

, Marita Lipsanen-Nyman

, and Anna-Elina Lehesjoki

DOI:
10.1093/med/9780199934522.003.0216
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date: 25 February 2021

Mulibrey nanism is an autosomal recessive inherited rare prenatal-onset growth restriction disorder with multiorgan manifestations. Main features include progressive cardiopathy, characteristic dysmorphic features, insulin resistance, metabolic syndrome, increased risk for tumors and infertility due to gonadal failure. The identification of mutations in the TRIM37 gene as the underlying primary defect has enabled molecular diagnostics of mulibrey nanism. The TRIM37 protein has been shown to localize, at least partially, to the peroxisomes and to possess E3 ubiquitine ligase activity, implying defective proteasomal degradation or regulatory ubiquitination as possible pathogenetic mechanisms for mulibrey nanism. However, the exact physiological function of TRIM37 and the molecular mechanisms underlying mulibrey nanism still remain unsolved.

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