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1.
Chinese Journal of Medical Genetics ; (6): 1301-1305, 2023.
Artículo en Chino | WPRIM | ID: wpr-1009294

RESUMEN

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.


Asunto(s)
Femenino , Humanos , Lactante , Biología Computacional , Factor de Transcripción COUP I/genética , Pruebas Genéticas , Genómica , Genotipo , Atrofia Óptica/genética
2.
Chinese Journal of Medical Genetics ; (6): 1288-1291, 2023.
Artículo en Chino | WPRIM | ID: wpr-1009291

RESUMEN

OBJECTIVE@#To explore the genetic basis for a child featuring global developmental disorder with epilepsy.@*METHODS@#A child who had presented at Guangzhou Women and Children's Medical Center in July 2022 was selected as the study subject. Clinical data was collected. Potential variant was detected by whole exome sequencing (WES). Candidate variant was validated by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The child, a three-year-old ethnic Zhuang Chinese girl, had presented with global developmental disorder and epilepsy, for which rehabilitation therapy was ineffective. Genetic testing revealed that she has harbored a homozygous c.821T>C (p.Leu274Pro) missense variant of the PIGW gene, for which both of her parents and sister were heterozygous carriers. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as variant of uncertain significance.@*CONCLUSION@#The homozygous c.821T>C (p.Leu274Pro) variant of the PIGW gene probably underlay the onset of disease in this child. Above finding has enriched the mutational spectrum of the PIGW gene.


Asunto(s)
Preescolar , Femenino , Humanos , Biología Computacional , Discapacidades del Desarrollo , Epilepsia/genética , Pruebas Genéticas , Homocigoto
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