Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations.
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.
Department of Clinical Genetics, Division of Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.|Centre of Excellence for Human Genetics, National Research Centre, Cairo, Egypt.
Mona
M
Aglan
Centre of Excellence for Human Genetics, National Research Centre, Cairo, Egypt.|Department of Medical Molecular Genetics, Division of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt.
Khalda
K
Amr
Department of Clinical Genetics, Division of Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.|Centre of Excellence for Human Genetics, National Research Centre, Cairo, Egypt.
Samira
S
Ismail
Department of Clinical Genetics, Division of Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.|Centre of Excellence for Human Genetics, National Research Centre, Cairo, Egypt.
Adel
A
Ashour
Department of Clinical Genetics, Division of Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.|Centre of Excellence for Human Genetics, National Research Centre, Cairo, Egypt.
Ghada A
GA
Otaify
Centre of Excellence for Human Genetics, National Research Centre, Cairo, Egypt.|Department of Orodental Genetics, Division of Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Mennat Allah I
MA
Mehrez
Centre of Excellence for Human Genetics, National Research Centre, Cairo, Egypt.|Department of Basic Oral Dental Science, Division of Oral and Dental Research, National Research Centre, Cairo, Egypt.
Eman H A
EH
Aboul-Ezz
Department of Clinical Genetics, Division of Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.|Centre of Excellence for Human Genetics, National Research Centre, Cairo, Egypt.
Mona
M
El-Ruby
Department of Clinical Genetics, Division of Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.|Centre of Excellence for Human Genetics, National Research Centre, Cairo, Egypt.
Inas
I
Mazen
Centre of Excellence for Human Genetics, National Research Centre, Cairo, Egypt.|Department of Medical Molecular Genetics, Division of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt.
Mohamed S
MS
Abdel-Hamid
Department of Clinical Genetics, Division of Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.|Centre of Excellence for Human Genetics, National Research Centre, Cairo, Egypt.
Samia A
SA
Temtamy
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004534:Egypt; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital / Q000235:genetics* / Q000473:pathology*; D008297:Male; D019767:Maxillofacial Abnormalities / Q000235:genetics* / Q000473:pathology*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011379:Prognosis; D057050:Receptor Tyrosine Kinase-like Orphan Receptors / Q000235:genetics*; D013131:Spine / Q000002:abnormalities* / Q000473:pathology; D013577:Syndrome
C078717:ROR2 protein, human; D057050:Receptor Tyrosine Kinase-like Orphan Receptors
Egyptians; Robinow syndrome; autosomal recessive; novel mutations