Jaberi-Elahi syndrome

Definition:

Jaberi-Elahi syndrome is an autosomal recessive neurodevelopmental disorder characterized by dystonia, ataxia, cognitive dysfunction, motor neuropathy, and retinal abnormalities. It has been reported that mutations in GTPBP2 cause this syndrome.

References:

[1]. Aida M Bertoli-Avella, et al. Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability. Eur J Hum Genet. 2018 Apr;26(4):592-598. [Content Brief]

[2]. Elham Jaberi, et al. Identification of mutation in GTPBP2 in patients of a family with neurodegeneration accompanied by iron deposition in the brain. Neurobiol Aging. 2016 Feb;38:216.e11-216.e18. [Content Brief]

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