The molecular landscape of progressive familial intrahepatic cholestasis in Turkey: Defining the molecular profiles and expanding the variant spectrum
Annals of Human Genetics, cilt.86, sa.3, ss.119-126, 2022 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 86 Sayı: 3
- Basım Tarihi: 2022
- Doi Numarası: 10.1111/ahg.12456
- Dergi Adı: Annals of Human Genetics
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, International Bibliography of Social Sciences, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, zbMATH
- Sayfa Sayıları: ss.119-126
- Anahtar Kelimeler: ABCB11, ABCB4, Next-generation sequencing, progressive familial intrahepatic cholestasis
- Sağlık Bilimleri Üniversitesi Adresli: Hayır
Özet
Progressive familial intrahepatic cholestasis (PFIC) is a rare genetically heterogeneous group of autosomal recessive liver disorders that manifests as intrahepatic cholestasis during the neonatal period. ATP8B1, ABCB11, and ABCB4 genes are responsible for PFIC type 1, PFIC type 2, and PFIC type 3, respectively. To determine the underlying molecular etiology of PFIC, 80 patients from 77 families were investigated. The molecular genetic diagnosis was applied by using next-generation sequencing (NGS) and revealed 29 different variants from 32 patients. In this study, we evaluated these variants according to mechanisms, clinical sub-groups, and genotype-phenotype correlation.