Open AccessNovel mutation detection of fibroblast growth factor receptor 1 (FGFR1) gene, FGFR2IIIa, FGFR2IIIb, FGFR2IIIc, FGFR3, FGFR4 gene for craniosynostosis: A prospective study in Asian Indian patient
Author(s) -
Mayadhar Barik,
Minu Bajpai,
Arun Malhotra,
Jyotish Chandra Samantaray,
Dwivedi Sn,
Sambhunath Das
Publication year - 2015
Publication title -
journal of pediatric neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/1817-1745.165659
Subject(s) - craniosynostosis , missense mutation , fibroblast growth factor receptor 1 , exon , medicine , genetics , mutation , fibroblast growth factor receptor , gene , crouzon syndrome , biology , fibroblast growth factor , receptor
Craniosynostosis (CS) syndrome is an autosomal dominant condition classically combining craniosynostosis and non-syndromic craniosynostosis with digital anomalies of the hands and feet. The majority of cases are caused by heterozygous mutations in the third immunoglobulin-like domain (IgIII) of FGFR2, whilst a larger number of cases can be attributed to mutations outside this region of the protein.