PSAT1 and Neu-Laxova syndrome: PSAT1 was subsequently investigated as a candidate gene for serine metabolic dysfunction, and mutations in PSAT1 were found in six individuals with Neu-Laxova syndrome (Acuna-Hidalgo, et al., 2014).In this study, we reported two independent patients with the same homozygous mutation who presented with ichthyosis of variable severity and juvenile-onset peripheral neuropathy.