A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity

Human Mutation

Volumn 21, Issue 6, 2003, Pages 630-635

  Jagiello, Peter ^a,c   Hammans, C ^a   Wieczorek, S ^a   Arning, L ^a   Stefanski, A ^a   Strehl, H ^b   Epplen, J T ^a   Gencik, M ^a  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b KLINIKUM DORTMUND   (Germany)

^c RUHR UNIVERSITY BOCHUM   (Germany)

Author keywords

Altered splicing; KIAA0898; MUL; Mulibrey nanism; TRIM37

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN; CASE REPORT; CONTROLLED STUDY; DWARFISM; EYE; FAMILY STUDY; FEMALE; GENE; GENE MUTATION; HUMAN; HUMAN CELL; LIVER; LYMPHOBLASTOID CELL; MULIBREY NANISM; MUSCLE; MUSCLE TISSUE; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SCHOOL CHILD; TRIM37 GENE; TURKEY (REPUBLIC);

BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; DWARFISM; FEMALE; FRAMESHIFT MUTATION; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUSCLES; MUTATION; NUCLEAR PROTEINS; PEDIGREE; PEROXISOMAL DISORDERS; PHENOTYPE; PROTEINS; RNA SPLICE SITES; RNA, MESSENGER; TURKEY;

EID: 0037565126     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10220     Document Type: Article

References (12)

1. Avela K, Lipsanen-Nyman M, Idanheimo N, Seemanova E, Rosengren S, Makela TP, Perheentupa J, de la Chapelle A, Lehesjoki A. 2000. Gene encoding a new RING-B-box-coiled-coil protein is mutated in mulibrey nanism. Nat Genet 25:298-301.
2. Caceres JF, Komblihtt AR. 2002. Alternative splicing: multiple control mechanisms and involvement in human disease. Trends Genet 18:186-193.
3. Cartegni L, Chew SL, Krainer AR. 2002. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 3:285-298.
4. Du K, Peng Y, Greenbaum LE, Haber BA, Taub R. 1997. HRS/SRp40-mediated inclusion of the fibronectin EIIIB exon, a possible cause of increased EIIIB expression in proliferating liver. Mol Cell Biol 17:4096-4104.
5. Kallijärvi J, Avela K, Lipsanen-Nyman M, Ulmanen I, Lehesjoki AE. 2002. The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder. Am J Hum Genet 70:1215-1228.
6. Kuo BA, Uporova TM, Liang H, Bennett VD, Tuan RS, Norton PA. 2002. Alternative splicing during chondrogenesis: modulation of fibronectin exon EIIIA splicing by SR proteins. J Cell Biochem. 86:45-55.
7. Perheentupa J, Autio S, Leisti S, Raitta C, Tuuteri L. 1973. Mulibrey nanism, an autosomal recessive syndrome with pericardial constriction. Lancet II:351-355.
8. Reddy BA, Etkin LD. 1992. A novel zinc finger coiled-coil domain in a family of nuclear proteins. Trends Biochem Sci 17:344-345.
9. Saurin AJ, Borden KL, Boddy MN, Freemont PS. 1996. Does this have a familiar RING? Trends Biochem Sci 21:208-214.
10. Slack FJ, Ruvkun G. 1998. A novel repeat domain that is often associated with RING finger and B-box motifs. Trends Biochem Sci 23:474-475.
11. Thomson SA, Wallace MR. 2002. RT-PCR splicing analysis of the NF1 open reading frame. Hum Genet 110:495-502.
12. Zapata JM, Pawlowski K, Haas E, Ware CF, Godzik A, Reed JC. 2001. A diverse family of proteins containing tumor necrosis factor receptor-associated factor domains. J Biol Chem 276:24242-24252.