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Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.
Pediatr Neurol. 2014 May; 50(5):482-90.PN

Abstract

BACKGROUND

Fibroblast growth factor receptor 2 mutations have been associated with the craniosynostotic conditions of Apert, Crouzon, Pfeiffer, Saethre-Chotzen, Jackson-Weiss, Beare-Stevenson cutis gyrata, and Antley-Bixler syndromes in various ethnic groups.

METHODS

Thirty-three unrelated Turkish patients (12 with Apert syndrome, 14 with Crouzon syndrome, six with Pfeiffer syndrome, and one with Saethre-Chotzen syndrome) and 67 nonsyndromic craniosynostosis patients were screened for mutations in exons IIIa and IIIc of the FGFR2 gene by denaturing high-performance liquid chromatography and confirmed by direct sequencing.

RESULTS

We detected several pathogenic mutations in 11/33 (33%) patients with Apert syndrome (four with p.Pro253Arg; seven with p.Ser252Trp) and 8/33 (24%) patients with Crouzon syndrome (three with p.Trp290Arg, one with p.Cys342Tyr, p.Cys278Phe, p.Gln289Pro, and a novel p.Tyr340Asn mutation) and five (15%) with Pfeiffer syndrome (p.Cys342Arg, p.Pro253Arg, p.Trp290Arg, and p.Ser351Cys). No FGFR2 gene mutation was detected in any of the patients with Saethre-Chotzen syndrome and nonsyndromic craniosynostosis.

CONCLUSIONS

Our results indicate that the majority of Turkish patients with syndromic craniosynostosis have detectable genetic changes with an overall frequency of 72.7%. Because this is the first molecular genetic report from a Turkish cohort, the identified spectrum profile of FGFR2 mutations of the syndromic craniosynostotic patients would be very helpful for understanding the genotype-phenotype relationship and has a great value for diagnosis, prognosis, and genetic counseling.

Authors+Show Affiliations

Department of Pediatric Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey.Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey.Department of Pediatric Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey.Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey.Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey.Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey. Electronic address: oalper@akdeniz.edu.tr.Department of Medical Genetics, Institute of Children's Health, Faculty of Medicine, Istanbul University, Çapa, İstanbul, Turkey.Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

24656465

Citation

Nur, Banu G., et al. "Clinicogenetic Study of Turkish Patients With Syndromic Craniosynostosis and Literature Review." Pediatric Neurology, vol. 50, no. 5, 2014, pp. 482-90.
Nur BG, Pehlivanoğlu S, Mıhçı E, et al. Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review. Pediatr Neurol. 2014;50(5):482-90.
Nur, B. G., Pehlivanoğlu, S., Mıhçı, E., Calışkan, M., Demir, D., Alper, O. M., Kayserili, H., & Lüleci, G. (2014). Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review. Pediatric Neurology, 50(5), 482-90. https://doi.org/10.1016/j.pediatrneurol.2014.01.023
Nur BG, et al. Clinicogenetic Study of Turkish Patients With Syndromic Craniosynostosis and Literature Review. Pediatr Neurol. 2014;50(5):482-90. PubMed PMID: 24656465.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review. AU - Nur,Banu G, AU - Pehlivanoğlu,Suray, AU - Mıhçı,Ercan, AU - Calışkan,Mualla, AU - Demir,Durkadın, AU - Alper,Ozgül M, AU - Kayserili,Hülya, AU - Lüleci,Güven, Y1 - 2014/01/11/ PY - 2013/10/09/received PY - 2013/12/28/revised PY - 2014/01/03/accepted PY - 2014/3/25/entrez PY - 2014/3/25/pubmed PY - 2014/12/15/medline KW - Apert syndrome KW - Crouzon syndrome KW - DHPLC KW - Pfeiffer syndrome KW - craniosynostosis SP - 482 EP - 90 JF - Pediatric neurology JO - Pediatr Neurol VL - 50 IS - 5 N2 - BACKGROUND: Fibroblast growth factor receptor 2 mutations have been associated with the craniosynostotic conditions of Apert, Crouzon, Pfeiffer, Saethre-Chotzen, Jackson-Weiss, Beare-Stevenson cutis gyrata, and Antley-Bixler syndromes in various ethnic groups. METHODS: Thirty-three unrelated Turkish patients (12 with Apert syndrome, 14 with Crouzon syndrome, six with Pfeiffer syndrome, and one with Saethre-Chotzen syndrome) and 67 nonsyndromic craniosynostosis patients were screened for mutations in exons IIIa and IIIc of the FGFR2 gene by denaturing high-performance liquid chromatography and confirmed by direct sequencing. RESULTS: We detected several pathogenic mutations in 11/33 (33%) patients with Apert syndrome (four with p.Pro253Arg; seven with p.Ser252Trp) and 8/33 (24%) patients with Crouzon syndrome (three with p.Trp290Arg, one with p.Cys342Tyr, p.Cys278Phe, p.Gln289Pro, and a novel p.Tyr340Asn mutation) and five (15%) with Pfeiffer syndrome (p.Cys342Arg, p.Pro253Arg, p.Trp290Arg, and p.Ser351Cys). No FGFR2 gene mutation was detected in any of the patients with Saethre-Chotzen syndrome and nonsyndromic craniosynostosis. CONCLUSIONS: Our results indicate that the majority of Turkish patients with syndromic craniosynostosis have detectable genetic changes with an overall frequency of 72.7%. Because this is the first molecular genetic report from a Turkish cohort, the identified spectrum profile of FGFR2 mutations of the syndromic craniosynostotic patients would be very helpful for understanding the genotype-phenotype relationship and has a great value for diagnosis, prognosis, and genetic counseling. SN - 1873-5150 UR - https://www.unboundmedicine.com/medline/citation/24656465/Clinicogenetic_study_of_Turkish_patients_with_syndromic_craniosynostosis_and_literature_review_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0887-8994(14)00025-3 DB - PRIME DP - Unbound Medicine ER -