ABHD12 gene

• Overview
• Retinitis pigmentosa
• Additional information
• References

Overview

Gene (OMIM No.)	ABHD12 (#613599)
Function of gene/protein	Protein: Lysophosphatidylserine lipase ABHD12 Hydrolyses 2-arachidonoyl glycerol (2-AG) to arachidonate and glycerol in the brain Highly expressed in microglia
Clinical phenotype (OMIM phenotype no.)	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract; PHARC (#612674)
Inheritance	Autosomal recessive
Signs	Cataract (posterior sub-capsular type predominantly) Retinitis pigmentosa Some have macular involvement ranging from RPE alterations to perifoveal atrophy
Visual function	Nyctalopia from the 3rd decade Progressive visual field loss eventually affecting central vision
Systemic features	Progressive neurodegenerative disorder Variable age of onset and neurological features Sensorineural hearing loss and ocular signs seem to be constant features Ataxic and/or spastic gait disturbances Sensorimotor neuropathy in upper and lower limbs High arched feet, Achilles tendon contractures
Key investigations	ERG: severe rod-cone dystrophy/extinguished responses OCT and FAF Neurological assessment (audiology, MRI brain) Systemic assessment with a paediatrician and other relevant specialists
Molecular diagnosis	Next generation sequencing Targeted gene panels (retinal) Whole exome sequencing Whole genome sequencing
Management	Ocular Management of RP Systemic Multidisciplinary approach
Therapies under research	None at present
Further information	OMIM

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Additional information

Homozygous or complex heterozygous null variants are associated with the complete PHARC phenotype while the presence of one missense variant may be associated with a milder phenotype, ranging from having some neurological features of PHARC to non-syndromic RP.^[3] 

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References

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