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Diagnosis of Bainbridge-Ropers syndrome due to de novo ASXL3 variant by high throughput sequencing / 中华医学遗传学杂志
Article in Zh | WPRIM | ID: wpr-826557
Responsible library: WPRO
ABSTRACT
OBJECTIVE@#To explore the clinical and genetic features of a patient with mental retardation.@*METHODS@#G-Banding chromosomal karyotyping and high-throughput sequencing was carried out for the child. Suspected variant was validated in his family by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The patient was found to carry a de novo heterozygous c.4090G>T (p.Gly1364X) variant of the ASXL3 gene, which was known to predispose to Bainbridge-Ropers syndrome.@*CONCLUSION@#The nonsense c.4090G>T (p.Gly1364X) variant probably accounts for the disease in this patient.
Subject(s)
Full text: 1 Index: WPRIM Main subject: Phenotype / Syndrome / Transcription Factors / Developmental Disabilities / Codon, Nonsense / High-Throughput Nucleotide Sequencing / Genetics / Intellectual Disability Limits: Child / Humans Language: Zh Journal: Chinese Journal of Medical Genetics Year: 2020 Type: Article
Full text: 1 Index: WPRIM Main subject: Phenotype / Syndrome / Transcription Factors / Developmental Disabilities / Codon, Nonsense / High-Throughput Nucleotide Sequencing / Genetics / Intellectual Disability Limits: Child / Humans Language: Zh Journal: Chinese Journal of Medical Genetics Year: 2020 Type: Article