Özet:
Aim: Lipoid proteinosis (LP) is also known as Urbach-Wiethe disease which is a rare autosomal recessive disorder characterized
by intracellular accumulation of hyaline material in skin and mucosae. LP has typical neurological, dermatological and radiological
findings. The pathogenesis of disease is unknown. In literature several cases have been reported up to date. Mutations in extracellular
matrix protein 1 (ECM1) gene have been found to cause the disease. We evaluated the molecular features of a family diagnosed with
LP and evaluate the known and novel mutations of LP.
Material and Methods: Genomic DNA was extracted from peripheral blood of the patients and family members including clinically
normal parents and two siblings of the two affected subjects by using a commercial DNA extraction kit. Polymerase chain reaction
was performed for all 10 exons of ECM1 gene by using the primers defined.
Results: All of the exons of the ECM1 gene were sequenced and this revealed a 2-bp deletion in exon 7 of the ECM1 gene in both
patients and both parents. Patients have the homozygous 2-bp deletions (c735del TG) and the parents and two healthy siblings
showed heterozygous 2-bp deletion.
Conclusions: Our patients found to be homozygous for the deletion in ECM1 gene. In order to understand the molecular pathology
of the disease in detail, further functional analysis of the mutations should be performed.
