Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms
Open accessAbstract
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) resulting in an amino acid change (p.Ala458Ser), which was Sanger confirmed as maternally inherited and absent in his healthy brother. Alterations in lipid metabolism with abnormalities of the whole blood acyl carnitine profile were found. Biochemical and molecular modeling studies confirmed that the p.Ala458Ser mutation results in partial inactivation of FAAH2. Studies in patient derived fibroblasts confirmed a defect in FAAH2 activity resulting in altered levels of endocannabinoid metabolites. CONCLUSIONS: We propose that genetic alterations in FAAH2 activity contribute to neurologic and psychiatric disorders in humans.
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Other studies involving rare diseases, difficult-to-access tissue, or smaller grants are characterized by similarly low sample sizes.
“Other studies that involve rare diseases, the collection of difficult-to-access tissue, or smaller grants that do not allow for large consortium samples are characterized by similarly low sample sizes (Sirrs et al., 2015; Abela et al., 2017).”
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- Authors
- Sirrs, S., van Karnebeek, C. D., Peng, X., Shyr, C., Tarailo-Graovac, M., Mandal, R., Testa, D., Dubin, D., Carbonetti, G., Glynn, S. E., Sayson, B., Robinson, W. P., Han, B., Wishart, D., Ross, C. J., Wasserman, W. W., Hurwitz, T. A., Sinclair, G., & Kaczocha, M.
- Affiliations
- University of British Columbia (CA)
- Stony Brook University (US)
- University of Alberta (CA)
- ORCID
- Venue
- Orphanet Journal of Rare Diseases
- Published
- 2015-03-28
- Volume
- 10
- Issue
- 1
- Pages
- 38-38
- ISSN
- 1750-1172 (ISSN-L)
- PMC
- PMC4423390
- OpenAlex
- W2076265228
- Cited by
- 28
- References
- 46
- Citations by year
- 2025: 3 · 2024: 1 · 2023: 3 · 2022: 6 · 2021: 6 · 2020: 3 · 2019: 2 · 2018: 3 · 2016: 1
- FWCI
- 0.96
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Orphanet Journal of Rare Diseases (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (acceptedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- cIRcle (University of British Columbia) (submittedVersion, cc-by)
- Open Collections
- Funders
- Genome Canada (ABC4DE)
- Children's Hospital Foundation
- Michael Smith Health Research BC
- Genome British Columbia (00032, ABC4DE, SOF195, 301221, SOF-195 grant)
- Radboud Universiteit
- Canadian Institutes of Health Research (#301221)
- National Institute on Drug Abuse (R01DA035923, DA035923, R01DA035949, DA035949)
- National Institute of General Medical Sciences (T32GM008468)
- Topics
- Health Sciences › Medicine › Pharmacology › Cannabis and Cannabinoid Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- endocannabinoid system, endocannabinoid degradation, missense mutations, autism spectrum disorder, anxiety, psychogenic non-epileptic seizures, ataxia, supranuclear gaze palsy, learning disabilities, lipid metabolism, maternally inherited mutation, enzyme inactivation
- MeSH terms
- Fatty Acid Amide Hydrolases, Adult, Amidohydrolases, Anxiety, Central Nervous System Diseases, Cloning, Molecular, Depression, Gene Expression Regulation, Humans, Male, Models, Molecular, Protein Conformation, Mutation, Missense, HEK293 Cells
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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