Mutational analysis of CFTR in the Ecuadorian population using next-generation sequencing

Ruiz‐Cabezas, Juan Carlos; Barros, Francisco; García, Gustavo Mora; Burgos, Ramiro; Farhat, Carlos; Castro, Antonella; Muñoz, Lenin; Zambrano, Ana Karina; Martínez, Mariela; Montalván, Martha; Paz‐y‐Miño, César

doi:10.1016/j.gene.2019.02.015

Cited by 10 publications

(9 citation statements)

References 22 publications

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“…In a study of Brazil population, 3 (1.82%) CNVs ( CFTR dup2‐3, CFTR del25‐26, and CFTR del25‐27‐CTTNBP2) were identified in 165 CF patients (Martins et al, 2019). In a study of Ecuadorian population, five (3.55%) cases were identified with three deletions (deletion of CFTR exon 10, deletion of CFTR exon 12, CFTR dele22,23) in 141 CF patients using microarrays (Ruiz‐Cabezas et al, 2019). large genomic deletions of CFTR ( CFTR dele2 and CFTR dele22_24) was identified in 2 (1.10%) of the 182 samples affected with CBAVD analyzed in a study of European population (Taulan et al, 2007).…”

Section: Discussionmentioning

confidence: 99%

Analysis of CNVs of CFTR gene in Chinese Han population with CBAVD

Wang

Li³

et al. 2020

Molec Gen & Gen Med

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Congenital bilateral absence of vas deferens (CBAVD) is an important disease of male infertility, accounting for 1%-2% of infertile population (Jequier, Ansell, & Bullimore, 1985; Yu, Chen, Ni, & Li, 2012). CBAVD is characterized by absence of vas deferens and semen abnormality (Practice Committee of the American Society for Reproductive Medicine in collaboration with the Society for Male & Urology, 2018). Cystic fibrosis (CF) is a well-known genetic disease, and showed racial differences (it is common in Caucasians but not common in Asians) (Yang, Wang, Zhang, Li, & Wang, 2018). Cystic fibrosis transmembrane conductance regulator gene (CFTR) (OMIM: 602421) defect can cause CF

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Section: Discussionmentioning

confidence: 99%

Analysis of CNVs of CFTR gene in Chinese Han population with CBAVD

Wang

Li³

et al. 2020

Molec Gen & Gen Med

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“…For example, panels used in European populations to diagnose African descent patients eventually lead to inconclusive results [28]. In countries with heterogeneous populations, such as those in Latin America, the use of these panels also leads to misdiagnosis, which can compromise the patient's health and treatment [29][30][31][32]. In Brazil, with its highly mixed population, the choice of mutation panels designed for other populations has become ineffective for the diagnosis, leading to a low detection rate [33].…”

Section: Discussionmentioning

confidence: 99%

Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort

et al. 2021

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Cystic fibrosis (CF), an autosomal recessive genetic disease, is recognized as one of the most prevalent diseases in Caucasian populations. Epidemiological data show that the incidence of CF varies between countries and ethnic groups in the same region. CF occurs due to pathogenic variants in the gene encoding cystic fibrosis transmembrane conductance regulator (CFTR), located on chromosome 7q31.2. To date, more than 2,000 variants have been registered in the CFTR database. The study of these variants leads to the diagnosis and the possibility of a specific treatment for each patient through precision medicine. In this study, complete screening of CFTR was performed through next-generation sequencing (NGS) to gain insight into the variants circulating in the population of Rio de Janeiro and to provide patient access to treatment through genotype-specific therapies. Samples from 93 patients with an inconclusive molecular diagnosis were subjected to full-length screening of CFTR using an Illumina NGS HiSeq platform. Among these patients, 46 had two pathogenic variants, whereas 12 had only one CFTR variant. Twenty-four variants were not part of our routine screening. Of these 24 variants, V938Gfs ∗ 37 had not been described in the CF databases previously. This research achieved a molecular diagnosis of the patients with CF and identification of possible molecular candidates for genotype-specific treatments.

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“…Twelve CF patients from Guayaquil (coast) and Cuenca (highland) who were available and had new CFTR disease-causing variants reported in a previous study were selected: one patient from Guayaquil with c.1473T>A:p.Cys491*; one patient from Guayaquil and two from Cuenca with c.2672del:p.Asp891Alafs*15; one patient from Cuenca with c.1486T>C:p.Trp496Arg; six patients from Guayaquil and one from Cuenca with [c.757G>A:p.Gly253Arg; c.1352G>T:p.Gly451Val], were selected (18). DNA was extracted using Chelex 100 (Bio-Rad) (10%) from peripheral blood samples collected on FTA cards (GE Healthcare Life Sciences) and quantified using NanoDrop (Thermo Scientific).…”

Section: Samples and Dna Extractionmentioning

confidence: 99%