Mutation Analysis Of The ECM1 Gene In A Chinese Family With Lipoid Proteinosis

Mutation analysis of the ECM1 gene in a Chinese family with lipoid proteinosisObjective:A Chinese family with lipoid proteinosis is reported and extracellular matrix protein 1 (ECM1) was identified.Methods:Polymerase chain reaction (PCR),DNA direct nucleotide squencing and Clone squencing were used in mutation analysis.Results:Affected siblings and his mother were revealed to have a heterozygosis frameshift mutation,1473insT, in exon 10, which led to a premature stop codon downstream, which was not detected in 50 unrelated healthy controls.Conclusion:The frameshift mutation is the underlying cause of lipoid proteinosis in this family, which is not due to common polymorphism.