التفاصيل البيبلوغرافية
| العنوان: |
Genetic screening in a Brazilian cohort with inborn errors of immunity |
| المؤلفون: |
Ferreira, Cristina Santos, Francisco Junior, Ronaldo da Silva, Gerber, Alexandra Lehmkuhl, Guimarães, Ana Paula de Campos, de Carvalho, Flavia Amendola Anisio, dos Reis, Bárbara Carvalho Santos, Pinto-Mariz, Fernanda, de Souza, Monica Soares, de Vasconcelos, Zilton Farias Meira, Goudouris, Ekaterini Simões, Vasconcelos, Ana Tereza Ribeiro |
| المصدر: |
BMC Genomic Data ; volume 24, issue 1 ; ISSN 2730-6844 |
| بيانات النشر: |
Springer Science and Business Media LLC |
| سنة النشر: |
2023 |
| مصطلحات موضوعية: |
Health Informatics, Genetics |
| الوصف: |
Background Inherited genetic defects in immune system-related genes can result in Inborn Errors of Immunity (IEI), also known as Primary Immunodeficiencies (PID). Diagnosis of IEI disorders is challenging due to overlapping clinical manifestations. Accurate identification of disease-causing germline variants is crucial for appropriate treatment, prognosis, and genetic counseling. However, genetic sequencing is challenging in low-income countries like Brazil. This study aimed to perform genetic screening on patients treated within Brazil's public Unified Health System to identify candidate genetic variants associated with the patient’s phenotype. Methods Thirteen singleton unrelated patients from three hospitals in Rio de Janeiro were enrolled in this study. Genomic DNA was extracted from the peripheral blood lymphocytes of each patient, and whole exome sequencing (WES) analyses were conducted using Illumina NextSeq. Germline genetic variants in IEI-related genes were prioritized using a computational framework considering their molecular consequence in coding regions; minor allele frequency ≤ 0.01; pathogenicity classification based on American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) guidelines gathered from the VarSome clinical database; and IEI-related phenotype using the Franklin tool. The genes classification into IEI categories follows internationally recognized guidelines informed by the International Union of Immunological Societies Expert Committee. Additional methods for confirmation of the variant included Sanger sequencing, phasing analysis, and splice site prediction. Results A total of 16 disease-causing variants in nine genes, encompassing six different IEI categories, were identified. X-Linked Agammaglobulinemia, caused by BTK variations, emerged as the most prevalent IEI disorder in the cohort. However, pathogenic and likely pathogenic variants were also reported in other known IEI-related genes, namely CD40LG , CARD11 , WAS , CYBB ... |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
English |
| DOI: |
10.1186/s12863-023-01148-z |
| DOI: |
10.1186/s12863-023-01148-z.pdf |
| DOI: |
10.1186/s12863-023-01148-z/fulltext.html |
| الإتاحة: |
https://doi.org/10.1186/s12863-023-01148-zTest |
| حقوق: |
https://creativecommons.org/licenses/by/4.0Test ; https://creativecommons.org/licenses/by/4.0Test |
| رقم الانضمام: |
edsbas.67DEC99B |
| قاعدة البيانات: |
BASE |
