title: Allelic ROBO3 heterogeneity in Tunisian patients with horizontal gaze palsy with progressive scoliosis.
abstract: Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare autosomal recessive disorder characterized by the congenital absence of horizontal gaze, progressive scoliosis, and failure of the corticospinal and somatosensory axon tracts to decussate in the medulla. HGPPS is caused by mutations of the ROBO3 gene, which encodes a protein that shares homology with the roundabout family of transmembrane receptors that are important in axon guidance and neuronal migration. To date, over 15 mutations have been found in consanguineous families of Greek, Italian, Turkish, Pakistani, Saudi Arabian, and Indian descent. To detail clinical, cerebral magnetic resonance imaging (MRI) and genetic findings of ten HGPPS patients from four unrelated Tunisian families. Four unrelated consanguineous Tunisian families with a total of ten patients suffering from horizontal gaze palsy with progressive scoliosis. Genetic linkage analysis and direct sequencing of the ROBO3 gene. All patients shared similar clinical gaze movement abnormalities and variable degrees of scoliosis. Four distinct homozygous mutations were identified. This study extends the molecular spectrum of the ROBO3 gene and the geographic origin of patients with ROBO3 gene mutations, and underlines the homogeneity of the motor ocular syndrome whatever type of mutation is encountered.
authors.affiliation: Laboratoire de Neurobiologie Moléculaire et de Neuropathologie, Institut National de Neurologie, 1007 La Rabta, Tunis, Tunisia. rim.amouri@planet.tn
authors.forename: Rim
authors.initials: R
authors.lastname: Amouri
authors.forename: Houda
authors.initials: H
authors.lastname: Nehdi
authors.forename: Yosr
authors.initials: Y
authors.lastname: Bouhlal
authors.forename: Mounir
authors.initials: M
authors.lastname: Kefi
authors.forename: Abdelmajid
authors.initials: A
authors.lastname: Larnaout
authors.forename: Fayçal
authors.initials: F
authors.lastname: Hentati
mesh_terms: D000293:Adolescent; D000328:Adult; D022981:Allelic Imbalance / Q000235:genetics; D001933:Brain Stem / Q000002:abnormalities / Q000503:physiopathology; D002531:Cerebellum / Q000002:abnormalities / Q000503:physiopathology; D002648:Child; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics*; D009421:Nervous System Malformations / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D015835:Ocular Motility Disorders / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D011956:Receptors, Cell Surface; D011971:Receptors, Immunologic / Q000235:genetics* / Q000378:metabolism; D012600:Scoliosis / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D014416:Tunisia / Q000208:ethnology; D055815:Young Adult; D000097905:Roundabout Proteins
chemical_list: D005819:Genetic Markers; D011956:Receptors, Cell Surface; D011971:Receptors, Immunologic; C499630:ROBO3 protein, human; D000097905:Roundabout Proteins