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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.
AuthorsCybel Mehawej, Eliane Chouery, Diane Maalouf, Geneviève Baujat, Martine Le Merrer, Valérie Cormier-Daire, André Mégarbané
JournalEuropean journal of medical genetics (Eur J Med Genet) Vol. 55 Issue 2 Pg. 103-8 (Feb 2012) ISSN: 1878-0849 [Electronic] Netherlands
PMID22178368 (Publication Type: Journal Article)
CopyrightCopyright © 2011 Elsevier Masson SAS. All rights reserved.
Chemical References
  • ROR2 protein, human
  • Receptor Tyrosine Kinase-like Orphan Receptors
Topics
  • Child, Preschool
  • Craniofacial Abnormalities (genetics)
  • DNA Mutational Analysis
  • Female
  • Humans
  • Infant
  • Lebanon
  • Limb Deformities, Congenital (genetics)
  • Male
  • Maxillofacial Abnormalities (genetics)
  • Mutation
  • Pedigree
  • Receptor Tyrosine Kinase-like Orphan Receptors (genetics)
  • Spine (abnormalities)

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