title: Horizontal gaze palsy and progressive scoliosis due to a deleterious mutation in ROBO3.
abstract: OBJECTIVE
  To describe a family with horizontal gaze palsy and progressive scoliosis with a deleterious mutation in the ROBO3 gene.
  
  
  METHODS
  All family members had full ophthalmologic, neurologic, and orthopedic examinations and complete sequencing of the ROBO3 gene.
  
  
  RESULTS
  Four affected members had complete loss of horizontal gaze with progressive scoliosis that varied between family members. ROBO3 sequencing revealed a novel 15 base deletion (c.2_16 delTGCTGCGCTACCTGC) in exon 1 that segregated in homozygous form with the phenotype and probably alters the shape and ionic charge of the extracellular immunoglobulin motif 1. This mutation was not detected in 100 control chromosomes.
  
  
  CONCLUSIONS
  The novel ROBO3 mutation in this family may be among the most deleterious yet reported. Family members in general were severely affected, but comparison of this family to other families with ROBO3 mutations did not yield a definitive phenotype-genotype correlation.
authors: Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia. abuamero@gmail.com
authors: Khaled K
authors: KK
authors: Abu-Amero
authors: Seema
authors: S
authors: Kapoor
authors: Ali
authors: A
authors: Hellani
authors: Sumit
authors: S
authors: Monga
authors: Thomas M
authors: TM
authors: Bosley