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FGFR2 Gene Mutation

MedGen UID:
822894
•Concept ID:
C3830146
•
Cell or Molecular Dysfunction
Synonyms: BEK Gene Mutation; CD332 Gene Mutation; ECT1 Gene Mutation; FGFR-2 Gene Mutation; Fibroblast Growth Factor Receptor 2 Gene Mutation; K-SAM Gene Mutation; KGFR Gene Mutation

Definition

A change in the nucleotide sequence of the FGFR2 gene. [from NCI]

Professional guidelines

PubMed

Progress in clinical diagnosis and treatment of colorectal cancer with rare genetic variants.
Chen S, Gu J, Wu K, Zhao X, Lu Y
Cancer Biol Med 2024 Jun 15;21(6):473-83. doi: 10.20892/j.issn.2095-3941.2024.0026. PMID: 38940668Free PMC Article
Differential diagnosis of syndromic craniosynostosis: a case series.
Casteleyn T, Horn D, Henrich W, Verlohren S
Arch Gynecol Obstet 2022 Jul;306(1):49-57. Epub 2021 Oct 11 doi: 10.1007/s00404-021-06263-9. PMID: 34633507Free PMC Article
FGFR Inhibitors: Clinical Activity and Development in the Treatment of Cholangiocarcinoma.
King G, Javle M
Curr Oncol Rep 2021 Jul 16;23(9):108. doi: 10.1007/s11912-021-01100-3. PMID: 34269915

Recent clinical studies

Etiology

Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.
Nur BG, Pehlivanoğlu S, Mıhçı E, Calışkan M, Demir D, Alper OM, Kayserili H, Lüleci G
Pediatr Neurol 2014 May;50(5):482-90. Epub 2014 Jan 11 doi: 10.1016/j.pediatrneurol.2014.01.023. PMID: 24656465
Ala344Pro mutation in the FGFR2 gene and related clinical findings in one Chinese family with Crouzon syndrome.
Lin Y, Ai S, Chen C, Liu X, Luo L, Ye S, Liang X, Zhu Y, Yang H, Liu Y
Mol Vis 2012;18:1278-82. Epub 2012 May 15 PMID: 22665975Free PMC Article

Diagnosis

Apert syndrome: prenatal diagnosis challenge.
Vieira C, Teixeira N, Cadilhe A, Reis I
BMJ Case Rep 2019 Dec 9;12(12) doi: 10.1136/bcr-2019-231982. PMID: 31822532Free PMC Article
Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.
Nur BG, Pehlivanoğlu S, Mıhçı E, Calışkan M, Demir D, Alper OM, Kayserili H, Lüleci G
Pediatr Neurol 2014 May;50(5):482-90. Epub 2014 Jan 11 doi: 10.1016/j.pediatrneurol.2014.01.023. PMID: 24656465
Ala344Pro mutation in the FGFR2 gene and related clinical findings in one Chinese family with Crouzon syndrome.
Lin Y, Ai S, Chen C, Liu X, Luo L, Ye S, Liang X, Zhu Y, Yang H, Liu Y
Mol Vis 2012;18:1278-82. Epub 2012 May 15 PMID: 22665975Free PMC Article
A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance.
Everett ET, Britto DA, Ward RE, Hartsfield JK Jr
Cleft Palate Craniofac J 1999 Nov;36(6):533-41. doi: 10.1597/1545-1569_1999_036_0533_anfgmi_2.3.co_2. PMID: 10574673

Prognosis

Optic canal stenosis in Crouzon syndrome: a case report and literature review.
Bolotnikova IV, Shapovalov AS, Bazarkhandaeva TB, Ivanov VP, Khachatryan VA, Gulyaev DA, Brzhesky VV, Kim AV
Zh Vopr Neirokhir Im N N Burdenko 2024;88(4):100-106. doi: 10.17116/neiro202488041100. PMID: 39169588
Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.
Nur BG, Pehlivanoğlu S, Mıhçı E, Calışkan M, Demir D, Alper OM, Kayserili H, Lüleci G
Pediatr Neurol 2014 May;50(5):482-90. Epub 2014 Jan 11 doi: 10.1016/j.pediatrneurol.2014.01.023. PMID: 24656465
A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance.
Everett ET, Britto DA, Ward RE, Hartsfield JK Jr
Cleft Palate Craniofac J 1999 Nov;36(6):533-41. doi: 10.1597/1545-1569_1999_036_0533_anfgmi_2.3.co_2. PMID: 10574673

Clinical prediction guides

A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance.
Everett ET, Britto DA, Ward RE, Hartsfield JK Jr
Cleft Palate Craniofac J 1999 Nov;36(6):533-41. doi: 10.1597/1545-1569_1999_036_0533_anfgmi_2.3.co_2. PMID: 10574673

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