title: A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity.
abstract: 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.
authors.affiliation: Human Genetics, Ruhr-University, Bochum, Germany. peter.jagiello@ruhr-uni-bochum.de
authors.forename: P
authors.initials: P
authors.lastname: Jagiello
authors.forename: C
authors.initials: C
authors.lastname: Hammans
authors.forename: S
authors.initials: S
authors.lastname: Wieczorek
authors.forename: L
authors.initials: L
authors.lastname: Arning
authors.forename: A
authors.initials: A
authors.lastname: Stefanski
authors.forename: H
authors.initials: H
authors.lastname: Strehl
authors.forename: J T
authors.initials: JT
authors.lastname: Epplen
authors.forename: M
authors.initials: M
authors.lastname: Gencik
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D004392:Dwarfism / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009132:Muscles / Q000378:metabolism; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins; D010375:Pedigree; D018901:Peroxisomal Disorders / Q000235:genetics* / Q000503:physiopathology; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D000070584:Tripartite Motif Proteins; D014421:Turkey; D044767:Ubiquitin-Protein Ligases
chemical_list: D009687:Nuclear Proteins; D011506:Proteins; D022821:RNA Splice Sites; D012333:RNA, Messenger; D000070584:Tripartite Motif Proteins; C411745:TRIM37 protein, human; D044767:Ubiquitin-Protein Ligases