title: Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome.
abstract: Autosomal recessive Robinow syndrome (OMIM 268310) is a condition caused by mutations in the ROR2 gene, the receptor tyrosine kinase-like orphan receptor 2. The main characteristic features are: a face resembling that of a fetus, cleft lip and palate, mesomelic limb shortening, a micropenis in males, hydronephrosis or urinary tract infections, and skeletal and vertebral anomalies. This study reports two sisters from a consanguineous Lebanese family with an autosomal recessive Robinow syndrome. Both presented with short stature, dysmorphic facial features, and mild bone abnormalities. One of the affected girls had a malformation of her right hand: a mesoaxial polydactyly combined with a syndactyly of the 3rd and 4th fingers, and a short right 3rd metacarpal bone. Molecular analysis of the ROR2 gene revealed the presence of a previously undescribed missense mutation: p.R272C (c.814C>T), in the cysteine-rich domain of the protein. These patients are compared with other cases, and a phenotype-genotype correlation is discussed.
authors.affiliation: Unité de Génétique Médicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.
authors.forename: Cybel
authors.initials: C
authors.lastname: Mehawej
authors.forename: Eliane
authors.initials: E
authors.lastname: Chouery
authors.forename: Diane
authors.initials: D
authors.lastname: Maalouf
authors.forename: Geneviève
authors.initials: G
authors.lastname: Baujat
authors.forename: Martine
authors.initials: M
authors.lastname: Le Merrer
authors.forename: Valérie
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: André
authors.initials: A
authors.lastname: Mégarbané
mesh_terms: D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D007861:Lebanon; D017880:Limb Deformities, Congenital / Q000235:genetics*; D008297:Male; D019767:Maxillofacial Abnormalities / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D057050:Receptor Tyrosine Kinase-like Orphan Receptors / Q000235:genetics*; D013131:Spine / Q000002:abnormalities
chemical_list: C078717:ROR2 protein, human; D057050:Receptor Tyrosine Kinase-like Orphan Receptors