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
• ISSN: 2049-9434; 2049-9442
• DOI: 10.3892/br.2019.1181

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 a Vietnamese family of three generations and to characterize their associated clinical features. The family included in the present study underwent complete clinical examination. A patient was clinically examined and presented with typical features of Crouzon syndrome including craniosynostosis, shallow orbits, ocular proptosis and midface hypoplasia. However the patient had normal hands and feet, a normal hearing ability and normal intelligence. Genomic DNA collected from all family members (except from a 16 week-old-foetus) and 200 unrelated control subjects from the same population was extracted from leukocytes obtained from peripheral blood samples. Genomic DNA was extracted from the 16-week-old foetus via the amniotic fluid of the mother. All coding sequences of were amplified via polymerase chain reaction and directly sequenced. A heterozygous missense mutation (c.1012G>C, p.G338R) in exon 10 was identified in the patient with Crouzon but not in other family members, the 16 week-old-foetus or the controls. This mutation was therefore determined to be the causative agent of Crouzon syndrome. In addition, a novel heterozygous silent mutation (c.1164C>T, p.I388I) in exon 11 of the gene was identified in the patient with Crouzon, his mother and the 16-week-old fetus, but not in other family members. The mutation in exon 10 of was confirmed via restriction-enzyme digestion. The gain of the BI site confirmed the mutation in exon 10 of the patient with Crouzon. This molecular finding may provide useful information to aid clinicians in the diagnosis of Crouzon syndrome and may also aid early prenatal diagnoses.