title: Novel 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.
abstract: BACKGROUND
  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.
  
  
  OBJECTIVE
  To find out the FGFR1, FGFR2, FGFR3 and FGFR4 gene in craniosynostosis syndrome.
  
  
  METHODS
  A hospital based prospective study.
  
  
  METHODS
  Prospective analysis of clinical records of patients registered in CS clinic from December 2007 to January 2015 was done in patients between 4 months to 13 years of age. We have performed genetic findings in a three generation Indian family with Craniosynostosis syndrome.
  
  
  RESULTS
  We report for the first time the clinical and genetic findings in a three generation Indian family with Craniosynostosis syndrome caused by a heterozygous missense mutation, Thr 392 Thr and ser 311 try, located in the IgII domain of FGFR2. FGFR 3 and 4 gene basis syndrome was eponymously named. Genetic analysis demonstrated that 51/56 families to be unrelated. In FGFR3 gene 10/TM location of 1172 the nucleotide changes C>A, Ala 391 Glu 19/56 and Exon-19, 5q35.2 at conserved linker region the changes occurred pro 246 Arg in 25/56 families.
  
  
  CONCLUSIONS
  Independent genetic origins, but phenotypic similarities in the 51 families add to the evidence supporting the theory of selfish spermatogonial selective advantage for this rare gain-of-function FGFR2 mutation.
authors.affiliation: Department of Paediatric Surgery, Nuclear Medicine, Microbiology, Biostatistics and Cardiac Anaesthesia, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Mayadhar
authors.initials: M
authors.lastname: Barik
authors.affiliation: Department of Paediatric Surgery, Nuclear Medicine, Microbiology, Biostatistics and Cardiac Anaesthesia, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Minu
authors.initials: M
authors.lastname: Bajpai
authors.affiliation: Department of Paediatric Surgery, Nuclear Medicine, Microbiology, Biostatistics and Cardiac Anaesthesia, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Arun
authors.initials: A
authors.lastname: Malhotra
authors.affiliation: Department of Paediatric Surgery, Nuclear Medicine, Microbiology, Biostatistics and Cardiac Anaesthesia, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Jyotish Chandra
authors.initials: JC
authors.lastname: Samantaray
authors.affiliation: Department of Paediatric Surgery, Nuclear Medicine, Microbiology, Biostatistics and Cardiac Anaesthesia, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Sadananda
authors.initials: S
authors.lastname: Dwivedi
authors.affiliation: Department of Paediatric Surgery, Nuclear Medicine, Microbiology, Biostatistics and Cardiac Anaesthesia, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Sambhunath
authors.initials: S
authors.lastname: Das
keywords: Craniosynostosis; fibroblast growth factor receptor; genotypic; phenotypic