Abstract：
:Lipoid proteinosis is an autosomal recessive condition associated with variable scarring and infiltration of skin and mucosae. The disorder has recently been shown to result from loss-of-function mutations in the extracellular matrix protein 1 gene (ECM1) on 1q21. Extracellular matrix protein 1 has important physiological and biological roles in aspects of epidermal differentiation, binding of dermal collagens and proteoglycans, and in regulation of angiogenesis. Thus far pathogenic mutations have been described in 16 different families with lipoid proteinosis throughout the world. In this report, we describe the clinico-pathological features of a 10-year-old boy with lipoid proteinosis from a consanguineous Libyan family. By direct sequencing of the affected individual's genomic DNA, we identified a homozygous nonsense mutation in exon 2 of the ECM1 gene, Q32X. This mutation is the most 5' of all ECM1 mutations described thus far and is predicted to ablate the ECM1a, ECM1b and ECM1c splice variants of the ECM1 gene and to result in a severe clinical phenotype. Sequencing of DNA from the affected individual's five siblings revealed that four were heterozygous carriers of Q32X, findings that have important implications for genetic counselling given the high frequency of consanguineous marriages in Libya.
journal_name
Clin Exp Dermatoljournal_title
Clinical and experimental dermatologyauthors
Chan I,El-Zurghany A,Zendah B,Benghazil M,Oyama N,Hamada T,McGrath JAdoi
10.1046/j.1365-2230.2003.01341.xkeywords:
subject
Has Abstractpub_date
2003-09-01 00:00:00pages
545-8issue
5eissn
0307-6938issn
1365-2230pii
1341journal_volume
28pub_type
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journal_title：Clinical and experimental dermatology
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journal_title：Clinical and experimental dermatology
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journal_title：Clinical and experimental dermatology
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doi：10.1111/j.1365-2230.1993.tb00996.x
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doi：10.1111/j.1365-2230.1992.tb00195.x
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journal_title：Clinical and experimental dermatology
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journal_title：Clinical and experimental dermatology
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doi：10.1046/j.1365-2230.2002.01009.x
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journal_title：Clinical and experimental dermatology
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doi：10.1111/j.1365-2230.1989.tb02609.x
更新日期：1989-11-01 00:00:00
