Horizontal gaze palsy with progressive scoliosis

Definition:

Horizontal gaze palsy with progressive scoliosis (HGPPS) is an autosomal recessive disorder characterized by congenital absence of horizontal conjugate eye movements with progressive scoliosis developing in childhood and adolescence. HGPPS is caused by mutations in the axon guidance molecule ROBO3. Recently, it has been reported that mutations in DCC cause the syndrome with combined features of agenesis of the corpus callosum and HGPPS.

References:

[1]. Saumya S Jamuar, et al. Biallelic mutations in human DCC cause developmental split-brain syndrome. Nat Genet. 2017 Apr;49(4):606-612. [Content Brief]

[2]. W-M Chan, et al. Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3. J Med Genet. 2006 Mar;43(3):e11. [Content Brief]

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