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

*المؤلف المقابل لهذا العمل

نتاج البحث: المساهمة في مجلةArticleمراجعة النظراء

7 اقتباسات (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.

اللغة الأصليةEnglish
الصفحات (من إلى)3054-3061
عدد الصفحات8
دوريةAmerican Journal of Medical Genetics, Part A
مستوى الصوت167
رقم الإصدار12
المعرِّفات الرقمية للأشياء
حالة النشرPublished - ديسمبر 1 2015
منشور خارجيًانعم

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