Publication:
Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation

Issued Date

2003-03-01

Resource Type

Article

ISSN

0022202X

DOI

10.1046/j.1523-1747.2003.12073.x

Other identifier(s)

2-s2.0-0037338135

Rights

Mahidol University

Rights Holder(s)

SCOPUS

Bibliographic Citation

Journal of Investigative Dermatology. Vol.120, No.3 (2003), 345-350

Suggested Citation

Takahiro Hamada, Vesarat Wessagowit, Andrew P. South, Gabrielle H.S. Ashton, Ien Chan, Noritaka Oyama, Apatorn Siriwattana, Prachiya Jewhasuchin, Somyot Charuwichitratana, Devinder M. Thappa, Patsy Lenane, Bernice Krafchik, Kanokvalai Kulthanan, Hiroshi Shimizu, Tamer I. Kaya, Mehmet E. Erdal, Mauro Paradisi, Amy S. Paller, Mariko Seishima, Takashi Hashimoto, John A. McGrath Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. Journal of Investigative Dermatology. Vol.120, No.3 (2003), 345-350. doi:10.1046/j.1523-1747.2003.12073.x Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/20759

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Title

Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation

Author(s)

Takahiro Hamada
 Vesarat Wessagowit
 Andrew P. South
 Gabrielle H.S. Ashton
 Ien Chan
 Noritaka Oyama
 Apatorn Siriwattana
 Prachiya Jewhasuchin
 Somyot Charuwichitratana
 Devinder M. Thappa
 Patsy Lenane
 Bernice Krafchik
 Kanokvalai Kulthanan
 Hiroshi Shimizu
 Tamer I. Kaya
 Mehmet E. Erdal
 Mauro Paradisi
 Amy S. Paller
 Mariko Seishima
 Takashi Hashimoto
 John A. McGrath

Other Contributor(s)

St John's Institute of Dermatology
 Kurume University School of Medicine
 Mahidol University
 Hospital for Sick Children University of Toronto
 Hokkaido University School of Medicine
 Mersin Universitesi Tip Fakultesi
 IRCCS Istituto Dermopatico dell'Immacolata
 Northwestern University Feinberg School of Medicine
 Ogaki Municipal Hospital

Abstract

The autosomal recessive disorder lipoid proteinosis results from mutations in extracellular matrix protein 1 (ECM1), a glycoprotein expressed in several tissues (including skin) and composed of two alternatively spliced isoforms, ECM1a and ECM1b, the latter lacking exon 7 of this 10-exon gene (ECM1). To date, mutations that either affect ECM1a alone or perturb both ECM1 transcripts have been demonstrated in six cases. However, lipoid proteinosis is clinically heterogeneous with affected individuals displaying differing degrees of skin scarring and infiltration, variable signs of hoarseness and respiratory distress, and in some cases neurological abnormalities such as temporal lobe epilepsy. In this study, we sequenced ECM1 in 10 further unrelated patients with lipoid proteinosis to extend genotype-phenotype correlation and to add to the mutation database. We identified seven new homozygous nonsense or frameshift mutations: R53X (exon 3); 243delG (exon 4); 507delT (exon 6); 735delTG (exon 7); 785delA (exon 7); 892delc (exon 7) and 1190insC (exon 8), as well as two new compound heterozygous mutations: W160X/F167I (exon 6) and 542insAA/R243X (exons 6/7), none of which were found in controls. The mutation 507delT occurred in two unrelated subjects on different ECM1 haplotypes and may therefore represent a recurrent mutation in lipoid proteinosis. Taken with the previously documented mutations in ECM1, this study supports the view that exons 6 and 7 are the most common sites for ECM1 mutations in lipoid proteinosis. Clinically, it appears that mutations outside exon 7 are usually associated with a slightly more severe mucocutaneous lipoid proteinosis phenotype, but neurological features do not show any specific genotype-phenotype correlation.

Keyword(s)

Biochemistry, Genetics and Molecular Biology

Availability

URI

https://repository.li.mahidol.ac.th/handle/20.500.14594/20759

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Scopus 2001-2005