Banca de QUALIFICAÇÃO: ANA CRISTINA VIEIRA DE MELO

Uma banca de QUALIFICAÇÃO de MESTRADO foi cadastrada pelo programa.
STUDENT : ANA CRISTINA VIEIRA DE MELO
DATE: 26/10/2020
TIME: 08:00
LOCAL: DEFESA REMOTA - https://meet.google.com/umx-csyy-yjf
TITLE:

IDENTIFYING THE CFTR PATHOGENIC VARIANTS THROUGH NEXT GENERATION SEQUENCING IN BRAZILIAN CHILDREN WITH CYSTIC FIBROSIS


KEY WORDS:

Next generation sequencing; CFTR gene; rare variants; phenotypes profile


PAGES: 17
BIG AREA: Ciências da Saúde
AREA: Farmácia
SUMMARY:

Objective: To identify the spectrum of CFTR pathogenic variants in cystic fibrosis (CF) patients and to describe their phenotypic-genotypic features. We also sought to introduce as a routine evaluation to expose a possible rare mutation not described yet in CF databases.

Study design: We recruited 31 patients aged 1-37 years who had no molecular genetic diagnosis to perform CFTR mutation analysis through next-generation sequencing (NGS) and to detect new nucleotide variations. We associated clinical and diagnostic data with genetic testing to introduce as a routine evaluation.

Results: Mean age at diagnosis was 4 ± 4.4 years, although 26 (83.8%) started symptoms at 7-month-old. Eight (25.8%) were consanguineous. Thirteen (41,9%) had inadequate anthropometry at diagnosis. Twenty-three (74.2%) already had Pseudomonas aeruginosa (PA) in initial sputum cytobacteriological. NGS confirmed diagnosis in 29 (93.5%) patients. The mutational analysis resulted in 23 (74.1%) patients with p.Phe508del - 18 p.Phe508del homozygous and 5 heterozygous. Seven other rare variants were found: p.Ser4*, p.Trp1282*, c.2989-3C>G, p.Trp1089*, p.Ser364Metfs*7, p.Gly542*, p.Gln685Thrfs.

Conclusion: NGS technology allowed the recognition of p.Phe508del as the most common mutation, which causes a more severe CF phenotype. Besides, NGS disclosed a variant never described before related to its protein CFTR change, the p.Ser364Metfs*7. This technique could be introduced as a routine evaluation soon after the altered IRT e/or SCT to classify patients to new modulators therapies and better management of our actual and future CF patients.


BANKING MEMBERS:
Externo à Instituição - FERNANDO AUGUSTO DE LIMA MARSOM
Presidente - 2323511 - ADRIANA AUGUSTO DE REZENDE
Externo à Instituição - CONSTANTINO GIOVANNI BRAGA CARTAXO
Notícia cadastrada em: 16/10/2020 17:20
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