Extracellular Matrix Protein 1 Gene Mutation in Turkish Patients with Lipoid Proteinosis.

ABSTRACT:

Background

Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis characterized by mucocutaneous lesions and hoarseness of voice that develop in early childhood. LP is caused by mutation in the extracellular matrix protein 1 (ECM1) gene, which is located on 1q21.2.

Aims

This study aimed to present the profile of ECM1 gene mutations and to identify possible novel mutations specific to Turkey.

Materials and methods

The ECM1 gene mutations of 19 LP patients from five families were evaluated using DNA isolated from peripheral blood samples. All ten exons in the ECM1 gene region were amplified by polymerase chain reaction (PCR). The PCR products were analyzed using a DNA sequencing analyzer. The results of DNA sequencing were analy

SUBMITTER: Dertlioglu SB 

PROVIDER: S-EPMC6862362 | biostudies-literature | 2019 Nov-Dec

REPOSITORIES: biostudies-literature