Liqa A Rousan1, Abu Baker L Qased1, Ziad A Audat2, Laila T Ababneh3, Saied A Jaradat4. 1. a Department of Diagnostic and Interventional Radiology and Nuclear Medicine , Jordan University of Science and Technology , Irbid , Jordan. 2. b Department of Orthopedic Surgery , Jordan University of Science and Technology , Irbid , Jordan. 3. c Department of Ophthalmology , Jordan University of Science and Technology , Irbid , Jordan. 4. d Princess Haya Biotechnology Centre , Jordan University of Science and Technology , Irbid , Jordan.
Abstract
BACKGROUND: Horizontal gaze palsy and progressive scoliosis (HGPPS) is a rare autosomal recessive disorder due to mutations in ROBO3 gene. Patients have characteristic clinical and imaging findings. We report six patients from two families with this disorder with two novel mutations. MATERIALS AND METHODS: One patient from a non-consanguineous family and five patients from extended consanguineous families were clinically and radiologically examined. Blood samples from the patients and their parents were obtained and all the coding exons and flanking intronic sequences of the ROBO3 gene were amplified and subjected to bidirectional DNA sequencing. RESULTS: All six patients had the characteristic clinical and radiological findings of HGPPS. Genetic testing showed two novel mutations including frame-shift and nonsense. CONCLUSION: Two novel mutations in the ROBO3 gene were identified in two Jordanian families with six affected individuals. To our knowledge, this is the first molecular study of HGPPS in Jordan.
BACKGROUND: Horizontal gaze palsy and progressive scoliosis (HGPPS) is a rare autosomal recessive disorder due to mutations in ROBO3 gene. Patients have characteristic clinical and imaging findings. We report six patients from two families with this disorder with two novel mutations. MATERIALS AND METHODS: One patient from a non-consanguineous family and five patients from extended consanguineous families were clinically and radiologically examined. Blood samples from the patients and their parents were obtained and all the coding exons and flanking intronic sequences of the ROBO3 gene were amplified and subjected to bidirectional DNA sequencing. RESULTS: All six patients had the characteristic clinical and radiological findings of HGPPS. Genetic testing showed two novel mutations including frame-shift and nonsense. CONCLUSION: Two novel mutations in the ROBO3 gene were identified in two Jordanian families with six affected individuals. To our knowledge, this is the first molecular study of HGPPS in Jordan.