To elucidate the genotype-phenotype relationship in non-syndromic craniosynostosis by analysing the mutations of the FGFR1 and FGFR2 gene with nuclear imaging test

Non-syndromic Craniosynostosis (NSC) is a very heterogeneous group of disorders. Its etiology and pathophysiology play an important role in molecular genetics. Chromosomal alterations, mutation and polymorphism are causative mechanisms of non- syndromic forms of craniosynostosis, mutations of several genes are unequivocally associated with non-mendelian principles. Its inheritance patterns is strictly different fashion. We performed a retrospective analysis of 120 subjects attending from 2007 to 2013. Clinically decided NSC cases in All India Institute of Medical Sciences, New Delhi, India. Genetic test done for FGFR 1, FGFR 2, FGFR2IIIa, FGFR2IIIb, FGFRIIIc, FGFR3 (FGFR group gene only). We compare with ⁹⁹mTc ECD SPECT/CT, MRI Brain, NCCT Skull and X-ray skull. Results: 80% of gene in FGFR2 family (FGFR2IIIa, FGFR2IIIb, FGFR2IIIc genes) responsible rather than FGFR1, FGFR3, MSX2, TWIST1, RECQUL4, EFNB1, RAB23, FBN1, POR, TGFBR1 and TGFBR2 in previous results. ⁹⁹mTc ECD SPECT/CT gives better results and correlation with optimum perfusion level in both genotypic as well as phenotypic. Elucidating the genotype-phenotype, genetic pattern, genes, and syndromes of NSC. FGFR2 IIIa, IIIb, IIIc has given 80% (120). However FGFR1, FGFR3 has observed lesser than the correlation with NSC. According to previous scientific literature, study, observation and older hypothesis we first reported and given our results to public health and justified that FGFR2 gene and its isomers FGFR2IIIa, FGFR2IIIb, FGFR2IIIc genes may be reliable for prognostic marker as well as ⁹⁹mTc ECD brain SPECT before, after the surgery and follow up of the patients used as diagnostic marker is more helpful for NSC in management, counselling, screening and better treatment for future. (author)