A novel splice-site mutation in ECM-1 gene in a consanguineous family with lipoid proteinosis

Experimental Dermatology

Volumn 14, Issue 12, 2005, Pages 891-897

  Horev, Liran ^a   Potikha, Tamara ^a   Ayalon, Sharon ^a   Molho Pessach, Vered ^a   Ingber, Arieh ^a   Gany, Mohamad Abdel ^b   Edin, Basel Sad ^a   Glaser, Benjamin ^a   Zlotogorski, Abraham ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b Klalit Health Services   (Israel)

Author keywords

Extracellular matrix 1; Lipoid proteinosis; Site mutation; Splice

Indexed keywords

GENOMIC DNA; PROTEIN ECM 1; SCLEROPROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CELL CULTURE; CHILD; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; CORRELATION ANALYSIS; FEMALE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRON; LIPOID PROTEINOSIS; MALE; PHENOTYPE; SKIN COLOR; SKINFOLD; TRANSLATION INITIATION;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CONSANGUINITY; CYTOSINE; DNA, RECOMBINANT; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GUANINE; HOMOZYGOTE; HUMANS; INFANT; INTRONS; LIPOID PROTEINOSIS OF URBACH AND WIETHE; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; RNA;

EID: 28444498070     PISSN: 09066705     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1600-0625.2005.00374.x     Document Type: Article

References (21)

1. Hamada T. Lipoid proteinosis. Clin Exp Dermatol 2002: 27: 624-629.
2. Hamada T, McLean W H, Ramsay M et al. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet 2002: 11: 833-840.
3. Hamada T, Wessagowit V, South A P et al. Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype phenotype correlation. J Invest Dermatol 2003: 120: 345-350.
4. Chan I, El-Zurghany A, Zendah B et al. Molecular basis of lipoid proteinosis in a Libyan family. Clin Exp Dermatol 2003: 28: 545-548.
5. Smits P, Ni J, Feng P et al. The human extracellular matrix gene 1 (ECM1): genomic structure, cDNA cloning, expression pattern and chromosomal localization. Genomics 1997: 45: 487-495.
6. Van Hougenhouck-Tulleken W, Chan I, Hamada T et al. Clinical and molecular characterization of lipoid proteinosis in Namaqualand, South Africa. Br J Dermatol 2004: 151: 413-423.
7. Costagliola C, Verolino M, Landolfo P, Winkler N R, Mastropasqua L, Landolfo V. Lipoid proteinosis (Urbach-Wiethe disease). Ophthalmologica 1999: 213: 392-396.
8. Francois J. Genetics of cataract. Ophthalmologica 1982: 184: 61-71.
9. Mathieu E, Meheus L, Raymackers J, Merregaert J. Characterization of the stromal osteogenic cell line MN-7. identification of secreted MN7 proteins using two-dimensional polyacrylamide gel electrophoresis, western blotting and microsequencing. J Bone Miner Res 1994: 9: 903-913.
10. Mongiat M, Fu J, Oldershaw R, Greenhalgh R, Gown A M, Iozzo R V. Perlecan protein core interacts with extracellular matrix protein 1 (ECM-1), a glycoprotein involved in bone formation and angiogenesis. J Biol Chem 2003: 278: 17491-17499.
11. Kerkela E, Saarialho-Kere U. Matrix metalloproteinases in tumor progression: focus on basal and squamous cell skin cancer. Exp Dermatol 2003: 12: 109-125.
12. Krawczak M, Reiss J, Cooper D N. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 1992: 90: 41-54.
13. Cooper D N, Krawczak M, Antonarakis S E. The nature and mechanisms of human gene mutation. In: Scriver C R, Beaudet A L, Sly W S, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill, 1995: 259-291.
14. Kramer A. The structure and function of proteins involved in mammalian pre-mRNA splicing. Annu Rev Biochem 1996: 65: 367-409.
15. Schwarze U, Starman B J, Byers P H. Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation. Am J Hum Genet 1999: 65: 336-344.
16. Attanasio C, David A, Neerman-Arbez M. Outcome of donor splice site mutations accounting for congenital afibrinogenemia reflects order of intron removal in the fibrinogen alpha gene (FGA). Blood 2003: 101: 1851-1856.
17. Hentze M W, Kulozik A E. A perfect message: RNA surveillance and nonsense-mediated decay. Cell 1999: 96: 307-310.
18. Culbertson M R. RNA Surveillance. Trends Genet 1999: 15: 74-80.
19. Maquat L E. Defects in RNA splicing and the consequence of shortened translational reading frames. Am J Hum Genet 1996: 59: 279-286.
20. Parkinson D B, Thakker R V. A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism. Nat Genet 1992: 1: 149-152.
21. Stamm S. Signals and their transduction pathways regulating alternative splicing: a new dimension of the human genome. Hum Mol Genet 2002: 11: 2409-2416.