Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations
| Autor: | Inas Mazen, Ghada A. Otaify, Mona Aglan, Samira Ismail, Eman Aboul-Ezz, Samia A. Temtamy, Mennat I Mehrez, Adel M. Ashour, Mona O. El-Ruby, Khalda Amr, Mohamed S. Abdel-Hamid |
|---|---|
| Rok vydání: | 2015 |
| Předmět: |
Male
Genotype Population DNA Mutational Analysis Limb Deformities Congenital Genes Recessive Gene mutation Biology medicine.disease_cause Receptor Tyrosine Kinase-like Orphan Receptors Genetics medicine Humans Abnormalities Multiple education Child Genetics (clinical) Genetic testing education.field_of_study Mutation medicine.diagnostic_test Genetic disorder Infant ROR2 Syndrome medicine.disease Prognosis Robinow syndrome Spine Maxillofacial Abnormalities Pedigree Phenotype Child Preschool Egypt Female Founder effect |
| Zdroj: | American journal of medical genetics. Part A. (12) |
| ISSN: | 1552-4833 |
| Popis: | Robinow syndrome (RS) is a rare genetic disorder characterized by limb shortening, genital hypoplasia, and craniofacial/orodental abnormalities. The syndrome follows both autosomal dominant and recessive patterns of inheritance with similar phenotypic presentation and overlapping features. Autosomal recessive Robinow syndrome (ARRS) is caused by mutations in the ROR2 gene. Here, we present the clinical, radiological and molecular findings of 11 Egyptian patients from 7 unrelated consanguineous families with clinical features of ARRS. Mutation analyses of ROR2 gene identified five pathogenic mutations distributed all over the gene. The identified mutations included four novel (G326A, D166H, S677F, and R528Q) and one previously reported (Y192D). Our results extend the number of ROR2 mutations identified so far, suggest a founder effect in the Egyptian population, and emphasize the important role of genetic testing in proper counseling and patients' management. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text