Ophthalmic genetics · 2019
Horizontal gaze palsy and progressive scoliosis with two novel ROBO3 gene mutations in two Jordanian families.
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Rousan Liqa A, Qased Abu Baker L, Audat Ziad A, Ababneh Laila T, Jaradat Saied A
Аннотация
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.
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.
Предметные рубрики MeSH
AdolescentAdultBrainChildChild, PreschoolConsanguinityExonsFemaleHumansJordanMagnetic Resonance ImagingMaleMutationOphthalmoplegia, Chronic Progressive ExternalPedigreeReceptors, Cell SurfaceScoliosisSequence Analysis, DNATomography, X-Ray ComputedRoundabout ProteinsCongenital Cranial Dysinnervation Disorders