TY - JOUR
T1 - Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome
T2 - Identification of four novel ROR2 gene mutations
AU - Aglan, Mona
AU - Amr, Khalda
AU - Ismail, Samira
AU - Ashour, Adel
AU - Otaify, Ghada A.
AU - Mehrez, Mennat Allah I.
AU - Aboul-Ezz, Eman H.A.
AU - El-Ruby, Mona
AU - Mazen, Inas
AU - Abdel-Hamid, Mohamed S.
AU - Temtamy, Samia A.
N1 - Publisher Copyright:
© 2015 Wiley Periodicals, Inc.
PY - 2015/12/1
Y1 - 2015/12/1
N2 - 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.
AB - 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.
KW - Autosomal recessive
KW - Egyptians
KW - Novel mutations
KW - Robinow syndrome
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U2 - 10.1002/ajmg.a.37287
DO - 10.1002/ajmg.a.37287
M3 - Article
C2 - 26284319
AN - SCOPUS:84959348794
SN - 1552-4825
VL - 167
SP - 3054
EP - 3061
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 12
ER -