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Analysis of NR2F1 gene variant in a child with optic atrophy and global developmental delay / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 1301-1305, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1009294
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a child with optic atrophy and global developmental delay.@*METHODS@#A child who had presented at the Guangzhou Women and Children's Medical Center in January 2022 was selected as the study subject. Clinical data were collected. Whole exome sequencing (WES) was carried out for the child. Candidate variant was validated by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The child, a nine-month-old female, had manifested dysopia and global developmental delay. Genetic testing revealed that she has harbored a de novo c.425G>C (p.Arg142Pro) variant of the NR2F1 gene, which has been associated with Bosch-Boonstra-Schaaf syndrome. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PS2+PM1+PM2_Supporting+PM5+PP3+PP4).@*CONCLUSION@#The c.425G>C (p.Arg142Pro) variant of the NR2F1 gene probably underlay the pathogenesis in this child. Above finding has enriched the genotypic and phenotypic spectrum of the NR2F1 gene.
Assuntos
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Atrofia Óptica / Testes Genéticos / Biologia Computacional / Genômica / Fator I de Transcrição COUP / Genótipo Limite: Feminino / Humanos / Lactente Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2023 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Atrofia Óptica / Testes Genéticos / Biologia Computacional / Genômica / Fator I de Transcrição COUP / Genótipo Limite: Feminino / Humanos / Lactente Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2023 Tipo de documento: Artigo