[Identification of a c.1A>G initial codon variation of ARX gene in a child with severe mental retardation]
Xueping Shen1, Fengfeng Qi, Chunjian Gu
1Huzhou Maternity and Child Health Care Hospital, Huzhou, Zhejiang 313000, China. qiff2006@163.com.
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.
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