Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2020
[Identification of a c.1A>G initial codon variation of ARX gene in a child with severe mental retardation].
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Shen Xueping, Qi Fengfeng, Gu Chunjian
Аннотация
OBJECTIVE: To explore the genetic basis for a child featuring severe mental retardation.
METHODS: The child was subjected to target region capture and next generation sequencing. Suspected variants were verified by Sanger sequencing.
RESULTS: The child was found to harbor a hemizygous c.1A>G (pMet1?) variation of the ARX gene, for which his mother was a heterozygous carrier. The mutation was unreported previously and was predicted to be "probably pathogenic" by bioinformatic analysis.
CONCLUSION: The c.1A>G (pMet1?) variant of the ARX gene may underlie the occurrence of severe mental retardation in this child.
METHODS: The child was subjected to target region capture and next generation sequencing. Suspected variants were verified by Sanger sequencing.
RESULTS: The child was found to harbor a hemizygous c.1A>G (pMet1?) variation of the ARX gene, for which his mother was a heterozygous carrier. The mutation was unreported previously and was predicted to be "probably pathogenic" by bioinformatic analysis.
CONCLUSION: The c.1A>G (pMet1?) variant of the ARX gene may underlie the occurrence of severe mental retardation in this child.