Two Novel Mutations in ABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects

• Published in: Human mutation Vol. 34; no. 12; pp. 1672 - 1678
• Main Authors: Chen, Dong-Hui, Naydenov, Alipi, Blankman, Jacqueline L., Mefford, Heather C., Davis, Marie, Sul, Youngmee, Barloon, A. Samuel, Bonkowski, Emily, Wolff, John, Matsushita, Mark, Smith, Corrine, Cravatt, Benjamin F., Mackie, Ken, Raskind, Wendy H., Stella, Nephi, Bird, Thomas D.
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.12.2013; John Wiley & Sons, Inc
• Subjects: ABHD12; Adult; Ataxia - diagnosis; Ataxia - genetics; Ataxia - metabolism; Cataract - diagnosis; Cataract - genetics; Cataract - metabolism; endocannabinoid; Expansion; Female; Gene Expression; Gene Order; GINS1; Heterozygote; Humans; hydrolase activity; Male; Monoacylglycerol Lipases - genetics; Monoacylglycerol Lipases - metabolism; Mutation; Pedigree; PHARC; Phenotype; Polyneuropathies - diagnosis; Polyneuropathies - genetics; Polyneuropathies - metabolism; Retinitis Pigmentosa - diagnosis; Retinitis Pigmentosa - genetics; Retinitis Pigmentosa - metabolism; Sequence Deletion; short stature; Transcription, Genetic; ABHD12; GINS1; endocannabinoid; short stature; PHARC; hydrolase activity

ABSTRACT PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataracts) is a recently described autosomal‐recessive neurodegenerative disease caused by mutations in the α−β−hydrolase domain‐containing 12 gene (ABHD12). Only five homozygous ABHD12 mutations have been reported and t...