A novel frameshift mutation in ESCO2 gene in roberts syndrome
Journal of the College of Physicians and Surgeons Pakistan, cilt.28, sa.5, ss.403-405, 2018 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 28 Sayı: 5
- Basım Tarihi: 2018
- Doi Numarası: 10.29271/jcpsp.2018.05.403
- Dergi Adı: Journal of the College of Physicians and Surgeons Pakistan
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.403-405
- Anahtar Kelimeler: Roberts syndrome, ESCO2, Novel mutation
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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.