Spastic paraplegia-psychomotor retardation-seizures syndrome

Definition:

Spastic paraplegia-psychomotor retardation-seizures syndrome (SPPRS) is an autosomal recessive neurodevelopmental syndrome caused by loss-of-function mutations in HACE1. HACE1 is an E3 ubiquitin ligase that regulates the activity of GTPases, including Rac1 and members of the Rab family.

References:

[1]. Nadia Akawi, et al. Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. Nat Genet. 2015 Nov;47(11):1363-9. [Content Brief]

[2]. Ronja Hollstein, et al. HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome. J Med Genet. 2015 Dec;52(12):797-803. [Content Brief]

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