Mulibrey nanism (muscle-liver-brain-eye nanism; MUL) is an autosomal recessively 
transmitted disease characterized by severe growth delays of prenatal onset 
caused by mutations in the TRIM37 gene. Recent studies on the subcellular 
localization revealed that the TRIM37 (KIAA0898) protein is located in 
peroxisomes. Therefore, MUL has been classified as a new peroxisomal disorder. 
Up to now, four mutations have been reported, all of which lead to frameshifts 
and truncated proteins. In this study, mutation screening was performed for the 
coding region of the TRIM37 gene in a Turkish family by means of RT-PCR and 
direct cDNA sequencing. We have identified a novel mutation resulting in a 
frameshift cosegregating within the family. Finally, we report on the presence 
of novel splice variants observed in lymphoblastoid cells and muscle tissue of 
normal subjects and patients.