title: Horizontal Gaze Palsy and Progressive Scoliosis With ROBO 3 Mutations in Patients From Cape Verde.
abstract: Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare and autosomal recessive syndrome. We describe 2 cases of HGPPS which are the first documented in patients of African ancestry from an isolated population in Cape Verde. They demonstrated typical findings on neuro-ophthalmic examination and brain magnetic resonance imaging. One patient had novel heterozymous mutations of the ROB0 3 gene.
authors.affiliation: Garcia de Orta Hospital, Almada, Portugal.
authors.forename: Nadine B P S
authors.initials: NBPS
authors.lastname: Mendes Marques
authors.forename: Sandra R
authors.initials: SR
authors.lastname: Barros
authors.forename: Ana F
authors.initials: AF
authors.lastname: Miranda
authors.forename: João
authors.initials: J
authors.lastname: Nobre Cardoso
authors.forename: Sónia
authors.initials: S
authors.lastname: Parreira
authors.forename: Teresa
authors.initials: T
authors.lastname: Fonseca
authors.forename: Nelvia M
authors.initials: NM
authors.lastname: Donaire
authors.forename: Nuno
authors.initials: N
authors.lastname: Campos
mesh_terms: D000293:Adolescent; D001933:Brain Stem / Q000473:pathology*; D055726:Cabo Verde; D002648:Child; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins; D015835:Ocular Motility Disorders / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology; D017246:Ophthalmoplegia, Chronic Progressive External / Q000150:complications* / Q000175:diagnosis; D010375:Pedigree; D011956:Receptors, Cell Surface; D011971:Receptors, Immunologic / Q000235:genetics* / Q000378:metabolism; D012600:Scoliosis / Q000150:complications* / Q000175:diagnosis; D000097905:Roundabout Proteins; D000093922:Congenital Cranial Dysinnervation Disorders
chemical_list: D004247:DNA; D009419:Nerve Tissue Proteins; D011956:Receptors, Cell Surface; D011971:Receptors, Immunologic; C499630:ROBO3 protein, human; D000097905:Roundabout Proteins