Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations

Mona Aglan, Khalda Amr, Samira Ismail, Adel Ashour, Ghada A. Otaify, Mennat Allah I. Mehrez, Eman H.A. Aboul-Ezz, Mona El-Ruby, Inas Mazen, Mohamed S. Abdel-Hamid*, Samia A. Temtamy

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

7 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)3054-3061
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Issue number12
Publication statusPublished - Dec 1 2015
Externally publishedYes


  • Autosomal recessive
  • Egyptians
  • Novel mutations
  • Robinow syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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