PHARC syndrome

Genetics

• This is caused by mutations in the ABHD12 gene on chromosome 20
• The gene hydrolyzes 2-arachidonoyl glycerol (2-AG)
• It is involved in endocannabinoid metabolism
• The transmission is autosomal recessive
• The onset is in the late teenage years

Clinical features

Differential diagnosis

Acronym

References

1. Fiskerstrand T, H'mida-Ben Brahim D, Johansson S, et al. Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism. Am J Hum Genet 2010; 87:410-417.
2. Chen DH, Naydenov A, Blankman JL, et al. Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects. Hum Mutat 2013; 34:1672-1678.
3. Nishiguchi KM, Avila-Fernandez A, van Huet RA, et al. Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration. Ophthalmology 2014; 121:1620-1627.
4. Chen DH, Naydenov A, Blankman JL, et al. Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects. Hum Mutat 2013; 34:1672-1678.
5. Yoshimura H, Hashimoto T, Murata T, et al. Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness. Ann Otol Rhinol Laryngol 2015; 124(Suppl 1):77S-83S.
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