ECM1 Gene Mutations in a Family with Lipoid Proteinosis / 中华皮肤科杂志
Chinese Journal of Dermatology
; (12)2003.
Article
in Zh
| WPRIM
| ID: wpr-526026
Responsible library:
WPRO
ABSTRACT
Objective To study mutations in the extracellular matrix protein 1 (ECM1) gene in a family with lipoid proteinosis (LP). Methods Bi-directional DNA sequencing was used to detect the ECM1 gene in patients with LP as well as among their parents, siblings and children. Results Sequencing from the affected individuals revealed a new compound heterozygote of missense/nonsense mutations, C220G/R476X, which were not found in the control group. The father was a carrier of the missense mutation C220G and the mother was a carrier of the nonsense mutation R476X, both on one allele. The other siblings, the patients' children and their siblings' children were carriers of either C220G or R476X mutations. Conclusion A new compound heterozygous mutation of ECM1 gene was identified in this LP family.
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Index:
WPRIM
Language:
Zh
Journal:
Chinese Journal of Dermatology
Year:
2003
Type:
Article