Detection of G338R FGFR2 mutation in a Vietnamese patient with Crouzon syndrome

• Published in: Biomedical reports Vol. 10; no. 2; pp. 107 - 112
• Main Authors: Luong, Anh, Ho, Thuong, Hoang, Ha, Nguyen, Trung, Ho, Tu, Tran, Phan, Hoang, Thuy, Nguyen, Nam, Chu, Hoang
• Format: Journal Article
• Language: English
• Published: England Spandidos Publications 01.02.2019; Spandidos Publications UK Ltd; D.A. Spandidos
• Subjects: Amniotic fluid; Autosomal dominant inheritance; Biochemistry; Chemical bonds; Cranial sutures; Craniofacial dysostosis; Craniosynostosis; Crouzon syndrome; Deoxyribonucleic acid; Diagnosis; DNA; Enzymes; Exophthalmos; Fetuses; Fibroblast growth factor receptor 2; Fibroblast growth factors; Fibroblasts; Gene mutation; Genes; Genetic disorders; Genetic research; Genetic testing; Growth factors; Hereditary diseases; Hypoplasia; Intelligence; Kinases; Leukocytes; Medical examination; Medical research; Missense mutation; Mutation; Novels; Patients; Peripheral blood; Polymerase chain reaction; Pregnant women; Prenatal diagnosis; Proteins; Reagents; Studies; Vietnam; United States > US; Germany; craniosynostosis; fibroblast growth factor receptor 2 mutation; Vietnamese family case; molecular analysis; Crouzon syndrome

Crouzon syndrome is a rare autosomal dominant genetic disorder, which causes the premature fusion of the cranial suture. Fibroblast growth factor receptor 2 (FGFR2) mutations are well-known causatives of Crouzon syndrome. The current study aimed to assess the gene associated with Crouzon syndrome in...