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Identification of single nucleotide variants in SLC26A9 gene in patients with cystic fibrosis (p.Phe508del homozygous) and its association to Orkambi® (Lumacaftor and Ivacaftor) response in vitro by Luana Gavioli Santos; Stéphanie Villa-Nova Pereira; Arthur Henrique Pezzo Kmit; Luciana Cardoso Bonadia; Carmen Sílvia Bertuzzo; José Dirceu Ribeiro; Taís Nitsch Mazzola; Fernando Augusto Lima Marson is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Identification of single nucleotide variants in SLC26A9 gene in patients with cystic fibrosis (p.Phe508del homozygous) and its association to Orkambi® (Lumacaftor and Ivacaftor) response in vitro about?

Background Since patients with cystic fibrosis with different Cystic Fibrosis Transmembrane Regulator (CFTR) genotypes present a wide response variability for modulator drugs such as Orkambi®, it is important to screen variants in candidate genes with an impact on precision and personalized medicine, such as Solute Carrier Family 26, member 9 (SLC26A9) gene. Methods Sanger sequencing for the exons and intron–exon boundary junctions of the SLC26A9 gene was employed in nine individuals with p.Phe508del homozygous genotype for the CFTR gene who were not under CFTR modulators therapy. The sequencing variants were evaluated by in silico prediction tools. The CFTR function was measured by cAMP–stimulated current (ΔIsc-eq-FSK) in polarized CFTR of human nasal epithelial cells cultured in micro–Ussing chambers with Orkambi®. Results We found 24 intronic variants, three in the coding region (missense variants – rs74146719 and rs16856462 and synonymous – rs33943971), and three in the three prime untranslated region (3′ UTR) region in the SLC26A9 gene. Twenty variants were considered benign according to American College of Medical Genetics and Genomics guidelines, and ten were classified as u

Who reads Identification of single nucleotide variants in SLC26A9 gene in patients with cystic fibrosis (p.Phe508del homozygous) and its association to Orkambi® (Lumacaftor and Ivacaftor) response in vitro?

Author

Luana Gavioli Santos; Stéphanie Villa-Nova Pereira; Arthur Henrique Pezzo Kmit; Luciana Cardoso Bonadia; Carmen Sílvia Bertuzzo; José Dirceu Ribeiro; Taís Nitsch Mazzola; Fernando Augusto Lima Marson

Publisher

Elsevier BV

Published

2023

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)