Clinical and genetic analysis of a case with Nicolaides-Baraitser syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 147-149, 2020.
Article
in Zh
| WPRIM
| ID: wpr-781279
Responsible library:
WPRO
ABSTRACT
OBJECTIVE@#To explore the genetic etiology of a girl featuring epilepsy, speech delay and mild mental retardation.@*METHODS@#Peripheral blood samples of the child and her parents were collected. Genomic DNA was extracted and subjected to next generation sequencing. Suspected variant was confirmed by Sanger sequencing.@*RESULTS@#The child was found to carry a de novo heterozygous c.3592G>A (p.V1198M) variant of the SMARCA2 gene, which was predicted to be pathogenic by bioinformatic analysis.@*CONCLUSION@#The child was diagnosed with Nicolaides-Baraitser syndrome due to heterozygous variant of the SMARCA2 gene.
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Index:
WPRIM
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2020
Type:
Article