Heterozygous c.1730G >C (p.Trp577Ser) Variation in a Case with Familial Hypercholesterolemia
Küçük Resim Yok
Tarih
2022
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
University of Nis, Faculty of Medicine
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Introduction: FH is an autosomal dominant disease of lipid metabolism. Hypercholesterolemia, xanthomas, and death from early coronary artery disease (CAD) are common in this disease due to a mutation in the LDLR, Apo-B100 or PCSK9 genes. Case report: A 4-year-old male patient with a very rare heterozygous c.1730G >C (p.Trp577Ser) variation in exon 12 of the low-density lipoprotein receptor (LDLR) gene that causes familial hypercholesterolemia (FH) was reported. As in this case, the heterozygous form may not show any symptoms in the first decade. This variation is region specific. Therefore, region-specific diagnostic criteria should be developed. Conclusion: We aimed to contribute to the literature on the development of diagnostic criteria by discussing the patient's condition with the clinical results. © 2022 Sciendo. All rights reserved.
Açıklama
Anahtar Kelimeler
Case Report, Familial Hypercholesterolemia, Ldlr Gene, Xanthomas
Kaynak
Acta Facultatis Medicae Naissensis
WoS Q Değeri
Scopus Q Değeri
Q3
Cilt
39
Sayı
4
