Dertlioğlu Selma Bakar, Edgünlü Tuba Gökdoğan, Şen Deniz Erol, Süzek Tuğba Önal
Department of Dermatology, Dermatology Clinic, Sıtkı Koçman University, Elazığ, Turkey.
Department of Medical Biology, Sıtkı Koçman University, Elazığ, Turkey.
Indian J Dermatol. 2019 Nov-Dec;64(6):436-440. doi: 10.4103/ijd.IJD_365_18.
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 () gene, which is located on 1q21.2.
This study aimed to present the profile of gene mutations and to identify possible novel mutations specific to Turkey.
The gene mutations of 19 LP patients from five families were evaluated using DNA isolated from peripheral blood samples. All ten exons in the 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 analyzed with bioinformatics methods.
of the 19 LP patients evaluated in our study, we detected defects in exon 6 (c.507delT, 658T>G), exon 9 (157C>T, 727C>T), and exon 10 (c.93_94delGCinsTT) of the gene.
Our results indicate that defects in exons 6, 9, and 10 of the gene were responsible for LP in our country. The identification of these pathogenic mutations is valuable because it facilitates early diagnosis and genetic counseling.
类脂蛋白沉积症（LP）是一种罕见的常染色体隐性遗传性皮肤病，其特征为在儿童早期出现皮肤黏膜病变和声音嘶哑。LP由位于1q21.2的细胞外基质蛋白1（ECM1）基因突变引起。
本研究旨在呈现ECM1基因突变情况，并识别可能特定于土耳其的新突变。
使用从外周血样本中分离的DNA评估来自五个家庭的19例LP患者的ECM1基因突变。通过聚合酶链反应（PCR）扩增ECM1基因区域的所有十个外显子。使用DNA测序分析仪分析PCR产物。用生物信息学方法分析DNA测序结果。
在我们研究评估的19例LP患者中，我们检测到ECM1基因外显子6（c.507delT，658T>G）、外显子9（157C>T，727C>T）和外显子10（c.93_94delGCinsTT）存在缺陷。
我们的结果表明，ECM1基因外显子6、9和10的缺陷是我国LP的病因。识别这些致病突变很有价值，因为它有助于早期诊断和遗传咨询。
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