A novel Frameshift Mutation in Esco2 Gene in Roberts Syndrome. | [Journal of College of Physicians and Surgeons--Pakistan : JCPSP • 2018]

Author(s):

1. Eda Mengen: Department of Pediatrics, Division of Pediatric Endocrinology, Ankara Children's Hematology and Oncology Training Hospital, Ankara, Turkey

2. Leman Damla Kotan: Department of Pediatrics, Division of Pediatric Endocrinology, Cukurova University, Faculty of Medicine, Adana, Turkey

3. Seyit Ahmet Ucakturk: Department of Pediatrics, Division of Pediatric Endocrinology, Ankara Children's Hematology and Oncology Training Hospital, Ankara, Turkey

4. Ali Kemal Topaloglu: Department of Pediatrics, Division of Pediatric Endocrinology, Cukurova University, Faculty of Medicine, Adana, Turkey

5. Bilgin Yuksel: Department of Pediatrics, Division of Pediatric Endocrinology, Cukurova University, Faculty of Medicine, Adana, 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.

Page(s): 403-405

DOI: DOI not available

Published: Journal: Journal of College of Physicians and Surgeons--Pakistan : JCPSP, Volume: 28, Issue: 5, Year: 2018

Keywords:

Keywords are not available for this article.

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