[Identification of a c.1A>G initial codon variation of ARX gene in a child with severe mental retardation].

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.