Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2020
[Clinical and genetic analysis of a case with Nicolaides-Baraitser syndrome].
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Ma Yanyan, Yu Chunmei, Zhang Kaihui, Jin Ruifeng, Lyu Yuqiang, Gao Min, Gai Zhongtao, Liu Yi
Аннотация
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.
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.