Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms.

ABSTRACT:

Background

Fatty acid amide hydrolase 2 (FAAH2) is a hydrolase that mediates the degradation of endocannabinoids in man. Alterations in the endocannabinoid system are associated with a wide variety of neurologic and psychiatric conditions, but the phenotype and biochemical characterization of patients with genetic defects of FAAH2 activity have not previously been described. We report a male with autistic features with an onset before the age of 2 years who subsequently developed additional features including anxiety, pseudoseizures, ataxia, supranuclear gaze palsy, and isolated learning disabilities but was otherwise cognitively intact as an adult.

Methods and results

Whole exome sequencing identified a rare missense mutation in FAAH2, hg19: g.57475100G > T (c.1372G > T) re

SUBMITTER: Sirrs S 

PROVIDER: S-EPMC4423390 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature