Lipoid proteinosis: Identification of two novel mutations in the human ECM-1 gene and lack of genotype-phenotype correlation

Acta Dermato-Venereologica

Volumn 89, Issue 5, 2009, Pages 528-529

  Horev, Liran ^a   Wollina, Uwe ^b   Potikha, Tamara ^a   Hafner, Ariela ^c   Ingber, Arieh ^a   Liu, Lu ^d   McGrath, John A ^e   Zlotogorski, Abraham ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b ACADEMIC TEACHING HOSPITAL DRESDEN FRIEDRICHSTADT   (Germany)

^c MACCABI HEALTHCARE SERVICES   (Israel)

^d GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^e ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; LYSINE;

ADULT; AMINO ACID SUBSTITUTION; CASE REPORT; CLINICAL EXAMINATION; ECM 1 GENE; EXON; EYELID EDEMA; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; LETTER; LIPOID PROTEINOSIS; MALE; PRIORITY JOURNAL; SKIN BIOPSY; SKIN NODULE; SKIN TUMOR; STOP CODON; TONGUE SWELLING;

ADULT; AMINO ACID SUBSTITUTION; BIOPSY; CODON, TERMINATOR; DNA MUTATIONAL ANALYSIS; EXONS; EXTRACELLULAR MATRIX PROTEINS; FRAMESHIFT MUTATION; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; LIPOID PROTEINOSIS OF URBACH AND WIETHE; MALE; MIDDLE AGED; PHENOTYPE; SEQUENCE DELETION; SKIN;

EID: 70350157078     PISSN: 00015555     EISSN: None     Source Type: Journal    
DOI: 10.2340/00015555-0673     Document Type: Letter

References (16)

1. Urbach E, Wiethe C. Lipoidosis cutis et mucosae. Virchows Arch Path Anat 1929; 273: 285-319.
2. Hamada T, McLean WH, Ramsay M, Ashton GH, Nanda A, JenkinsT, et al. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM 1 ). Hum Mol Genet 2001; 11: 833-840. (Pubitemid 34428651)
3. Hamada T, Wessagowit V, South AP, Ashton GH, Chan I, Oyama N, et al. Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype phenotype correlation. J Invest Dermatol 2003; 120: 345-350. (Pubitemid 36298417)
4. Van Hougenhouck-Tulleken W, Chan I, Hamada T, Thornton H, Jenkins T, McLean WH, et al. Clinical and molecular characterization of lipoid proteinosis in Namaqualand, South Africa. Br J Dermatol 2004; 151: 413-423. (Pubitemid 39215155)
5. Horev L, Potikha T, Ayalon S, Molho-Pessach V, Ingber A, Gany MA, et al. A novel splice-site mutation in ECM-1 gene in a consanguineous family with lipoid proteinosis. Exp Dermatol 2005; 14: 891-897. (Pubitemid 41723206)
6. Chan I, El-Zurghany A, Zendah B, Benghazil M, Oyama N, Hamada T, et al. Molecular basis of lipoid proteinosis in a Libyan family. Clin Exp Dermatol 2003; 28: 545-548. (Pubitemid 37100563)
7. Chan I, Sethuraman G, Sharma VK, Bruning E, Hamada T, McGrath JA. Molecular basis of lipoid proteinosis in two Indian siblings. J Dermatol 2004; 31: 764-766. (Pubitemid 39410197)
8. Chan I, Liu L, Hamada T, Sethuraman G, McGrath JA. The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1. Exp Dermatol 2007; 16: 881-890. (Pubitemid 47570627)
9. Di Giandomenico S, Masi R, Cassandrini D, El-Hachem M, De Vito R, Bruno C, et al. Lipoid proteinosis: case report and review of the literature. Acta Otorhinolaryngol Ital 2006; 26: 162-167.
10. Kowalewski C, Kozłowska A, Chan I, Górska M, Woźniak K, Jabłonska S, et al. Three dimensional imaging reveals major changes in skin microvasculature in lipoid proteinosis and lichen sclerosus. J Dermatol Sci 2005; 38: 215-224. (Pubitemid 40779575)
11. Lupo I, Cefalu AB, Bongiorno MR, Daniele O, Valenti V, Noto D, et al. A novel mutation of the extracellular matrix protein 1 gene (ECM1) in a patient with lipoid proteinosis (Urbach-Wiethe disease) from Sicily. Br J Dermatol 2005; 153: 1019-1022. (Pubitemid 41540772)
12. Wang CY, Zhang PZ, Zhang FR, Liu J, Tian HQ, Yu L. New compound heterozygous mutations in a Chinese family with lipoid proteinosis. Br J Dermatol 2006; 155: 470-472. (Pubitemid 44050588)
13. Mathieu E, Meheus L, Raymackers J, Merregaert J. Characterization of the osteogenic stromal cell line MN7: identification of secreted MN7 proteins using two-dimensional Polyacrylamide gel electrophoresis, western blotting, and microsequencing. J Bone Miner Res 1994; 9: 903-913. (Pubitemid 24178073)
14. Fujimoto N, Terlizzi J, Brittingham R, Fertala A, McGrath JA, Uitto J. Extracellular matrix protein 1 interacts with the domain III of fibulin-1C and 1D variants through its central tandem repeat 2. Biochem Biophys Res Commun 2005; 333: 1327-1333. (Pubitemid 40910148)
15. Mongiat M, Fu J, Oldershaw R, Greenhalgh R, Gown AM, Iozzo RV. Perlecan protein core interacts with extracellular matrix protein 1 (ECM1), a glycoprotein involved in bone formation and angiogenesis. J Biol Chem 2003; 278: 17491-17499. (Pubitemid 36799636)
16. Lewis B, Green RE, Brenner SE. Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans. PNAS 2003; 100: 189-192. (Pubitemid 36078050)