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A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity
Author(s) -
Jagiello P.,
Hammans C.,
Wieczorek S.,
Arning L.,
Stefanski A.,
Strehl H.,
Epplen J.T.,
Gencik M.
Publication year - 2003
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.10220
Subject(s) - biology , frameshift mutation , genetics , gene , mutation , phenotype , coding region , splice , splice site mutation , microbiology and biotechnology , exon , alternative splicing
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. Hum Mutat 21:630–635, 2003. © 2003 Wiley‐Liss, Inc.