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Targeted massively parallel sequencing panel to diagnose genetic endocrine disorders in a tertiary hospital
Narcizo, Amanda M.; Cardoso, Lais C.; Benedetti, Anna F.F.; Jorge, Alexander A.L.; Funari, Mariana F.A.; Braga, Barbara L.; Franca, Monica M.; Montenegro, Luciana R.; Lerario, Antonio M.; Nishi, Mirian Y.; Mendonca, Berenice B..
  • Narcizo, Amanda M.; Universidade de São Paulo. Faculdade de Medicina. Laboratório de Sequenciamento em Larga Escala. São Paulo. BR
  • Cardoso, Lais C.; Universidade de São Paulo. Faculdade de Medicina. Laboratório de Sequenciamento em Larga Escala. São Paulo. BR
  • Benedetti, Anna F.F.; Universidade de São Paulo. Faculdade de Medicina. Laboratório de Sequenciamento em Larga Escala. São Paulo. BR
  • Jorge, Alexander A.L.; Universidade de São Paulo. Faculdade de Medicina. Laboratório de Hormonios e Genetica Molecular/LIM42, Hospital das Clínicas. São Paulo. BR
  • Funari, Mariana F.A.; Universidade de São Paulo. Faculdade de Medicina. Laboratório de Hormonios e Genetica Molecular/LIM42, Hospital das Clínicas. São Paulo. BR
  • Braga, Barbara L.; Universidade de São Paulo. Faculdade de Medicina. Laboratório de Hormonios e Genetica Molecular/LIM42, Hospital das Clínicas. São Paulo. BR
  • Franca, Monica M.; Universidade de São Paulo. Faculdade de Medicina. Laboratório de Hormonios e Genetica Molecular/LIM42, Hospital das Clínicas. São Paulo. BR
  • Montenegro, Luciana R.; Universidade de São Paulo. Faculdade de Medicina. Laboratório de Sequenciamento em Larga Escala. São Paulo. BR
  • Lerario, Antonio M.; University of Michigan. Department of Internal Medicine. Ann Arbor. US
  • Nishi, Mirian Y.; Universidade de São Paulo. Faculdade de Medicina. Laboratório de Sequenciamento em Larga Escala. São Paulo. BR
  • Mendonca, Berenice B.; Universidade de São Paulo. Faculdade de Medicina. Laboratório de Sequenciamento em Larga Escala. São Paulo. BR
Clinics ; 77: 100132, 2022. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1421235
ABSTRACT
Abstract Objectives To analyze the efficiency of a multigenic targeted massively parallel sequencing panel related to endocrine disorders for molecular diagnosis of patients assisted in a tertiary hospital involved in the training of medical faculty. Material and methods Retrospective analysis of the clinical diagnosis and genotype obtained from 272 patients in the Endocrine unit of a tertiary hospital was performed using a custom panel designed with 653 genes, most of them already associated with the phenotype (OMIM) and some candidate genes that englobes developmental, metabolic and adrenal diseases. The enriched DNA libraries were sequenced in NextSeq 500. Variants found were then classified according to ACMG/AMP criteria, with Varsome and InterVar. Results Three runs were performed; the mean coverage depth of the targeted regions in panel sequencing data was 249×, with at least 96.3% of the sequenced bases being covered more than 20-fold. The authors identified 66 LP/P variants (24%) and 27 VUS (10%). Considering the solved cases, 49 have developmental diseases, 12 have metabolic and 5 have adrenal diseases. Conclusion The application of a multigenic panel aids the training of medical faculty in an academic hospital by showing the picture of the molecular pathways behind each disorder. This may be particularly helpful in developmental disease cases. A precise genetic etiology provides an improvement in understanding the disease, guides decisions about prevention or treatment, and allows genetic counseling.


Full text: Available Index: LILACS (Americas) Type of study: Diagnostic study / Prognostic study Language: English Journal: Clinics Journal subject: Medicine Year: 2022 Type: Article Affiliation country: Brazil / United States Institution/Affiliation country: Universidade de São Paulo/BR / University of Michigan/US

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Full text: Available Index: LILACS (Americas) Type of study: Diagnostic study / Prognostic study Language: English Journal: Clinics Journal subject: Medicine Year: 2022 Type: Article Affiliation country: Brazil / United States Institution/Affiliation country: Universidade de São Paulo/BR / University of Michigan/US