HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS (HGPPS)

ROBO3 GENE ANALYSIS IN HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare autosomal recessive congenital eye movement disorder with severe progressive scoliosis. Affected individuals have complete absence of conjugate horizontal gaze from birth but vertical eye movements are typically normal. The scoliosis develops in early/mid childhood (can be as early as 2 years of age) and affects the thoracic and lumbar vertebrae. HGPPS is caused by disease-causing variants in the ROBO3 gene (Jen et al 2004 Science 304, 1509-13, Chan et al 2006 J Med Genet 43, e11, Volk et al 2011 Mol Vis 17, 1978-86).

The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.