Türk Dislipidemi Hastalarında Hiperlipidemi İlişkili Gen Paneli Kullanılarak Genotip ve Fenotip Analizi Yapılması

Öz

Amaç: Ailesel hiperkolesterolemi (AH), monogenik kalıtılan hastalıklardan en sık görülenlerden biridir. Çok sayıda gen ailesel hiperkolesterolemi ile ilişkilendirilmiştir ve ailesel hiperkolesterolemili hastalarda gen paneli testi ile araştırılmaktadır. Gereç ve Yöntem: Bu çalışmada, AH'li 28 hasta ve bir kısmının ebeveynleri, 32 genden oluşan hedeflenmiş bir panel kullanılarak yeni nesil dizileme (NGS) ile değerlendirildi. Bulgular: Altı hastada LDLR LIPC ve CETP genlerinde patojenik veya olası patojenik varyantlar tespit edildi. Sonuç: Klinik bulgular literatür ile karşılaştırılarak bu varyantların genotip-fenotip korelasyonları tartışıldı. Anahtar sözcükler: ailevi hiperlipidemi; LDLR; gen paneli dizileme testi

Anahtar Kelimeler

• ailevi hiperlipidemi
• LDLR
• gen paneli dizileme testi

Genotype and Phenotype Analysis Using a Hyperlipidemia-Associated Gene Panel in Turkish Dyslipidemia Patients

Öz

Objective: Familial hypercholesterolemia (FH) is one of the most frequent diseases with monogenic inheritance. Numerous genes have been associated with familial hypercholesterolemia and are being investigated by gene panel testing in patients with familial hypercholesterolemia. Methods: In the present study, 28 patients with FH and some of their parents were evaluated via next-generation sequencing (NGS) using a targeted panel of 32 genes. Results: Pathogenic or likely pathogenic variants were detected in six patients in the genes LDLR LIPC and CETP. Conclusion: The genotype-phenotype correlations of these variants were discussed by comparing the clinical findings with the literature.

Anahtar Kelimeler

• familial hyperlipidemia
• LDLR
• gene panel sequencing test

Kaynakça

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