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A Novel Frameshift Mutation in ESCO2 Gene in Roberts Syndrome
Eda Mengen1, Leman Damla Kotan2, Seyit Ahmet Ucakturk1
1Department of Pediatrics, Division of Pediatric Endocrinology, Ankara Children's Hematology and Oncology Training Hospital, Ankara, Turkey.
Abstract:
Roberts syndrome is a very rare autosomal recessive inheritance pattern genetic disorder characterised by symmetric bilateral extremity deformities, midfacial defect, and severe intellectual deficit. These patients also grow slowly prenatal and postnatal. RBS is caused by mutation in the ESCO2 gene. With these clinical and radiological findings, the case was diagnosed as Roberts syndrome. Full gene sequencing of the ESCO2 gene for the patient was done. In this patient, a novel frameshift mutation was identified in the ESCO2 gene.
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