ECM1 Gene Mutations in a Family with Lipoid Proteinosis
- VernacularTitle:类脂质蛋白沉积症一家系的基因突变检测
- Author:
Changyuan WANG
;
Pingzhao ZHANG
;
Furen ZHANG
;
Jie LIU
;
Hongqing TIAN
;
Long YU
- Publication Type:Journal Article
- Keywords:
Lipoidproteinosis;
Extracellular matrix proteins;
Mutation
- From:
Chinese Journal of Dermatology
2003;0(11):-
- CountryChina
- Language:Chinese
-
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.
