The SLC7A5 gene encodes solute carrier transporter 7a5, a large neutral amino acid transporter localized at the blood brain barrier that appears to have an essential role in maintaining normal levels of branched-chain amino acids in the brain.
After screening whole exome sequencing (WES) data from more than 2,000 families with documented parental consanguinity, all including children with various neurological diseases, two independent families with multiple children affected by autism spectrum disorders were found who carried homozygous missense mutations in the SLC7A5 gene.dx.doi.org/10.1016/j.cell.2016.11.013
The two mutations found were (with GrCh37/hg19 reference positioning):
- 16:87874689G>A, aka A246V or Ala246Val (no rs-id assigned yet)
- rs757972971, 16:87871467G>A, aka P375L or Pro375Leu