| ORIGINAL ARTICLE
|Year : 2020 | Volume
| Issue : 2 | Page : 435--439
Novel Mutation Detection in Craniosynostosis Promotes Characterization, Identification, Gene Expression, Tissue Tengineering and Helps Clinical Practice and Translational Research
Mayadhar Barik1, Rahmat Bano2, Minu Bajpai1, Madhavi Tripathy1, Sambhunath Das1, Sadananda Dwivedi1
1 Department of Paediatric Surgery, Nuclear Medicine, Cardiac Anaesthesia and Biostatistics, All India Institute of Medical Sciences, New Delhi, India
2 Senior Consultant in Innovation and Translational Research, ICMR Head Quarters, New Delhi, India
Introduction: Craniosynostosis (CS) syndrome is an autosomal dominant condition (ADC) classically combining with CS and nonsyndromic CS (NSCS) including digital anomalies of the hands and feet. The majority of cases caused by a heterozygous mutation (HM) in the third immunoglobulin-like domain (IgIII) of fibroblast growth factor receptor (FGFR) 2 mutations outside this region of the protein.
Material and Methods: We tried to find out the spectrum of genes involved in CS syndrome caused by the heterozygous missense mutation, the IgII and IgIII of FGFR2. FGFR3, FGFR4, TWIST, and MSX genes were performed and verified through the Indian population with CS children.
Results: We find out that at conserved linker region (LR), the changes occurred among the larger families. Independent genetic origins, but phenotypic similarities add to the evidence supporting the theory of selfish spermatogonial selective advantage for this rare gain-of-function FGFR2 mutation. Polygenic novel mutation in both syndromic and nonsyndromic cases of CS promotes the translational research and holds a great promise to reproduce the molecular-based therapy and treatment as well. In this article, we summarized that genes involved in CS as evidence-based approach for characterization, identification, gene expression, and tissue engineering. We also described other related genes and proteins for the CS involvement and improvement of the diseases progression.
Conclusion: HM again repeated the old story for both groups of syndromic CS and NSCS of Asian Indian children. Here, for the first time, we clearly reported that IgIII of FGFR2 mutations outside this region of the protein and tyrosine kinase (TK1 and TK2) responsible for both in molecular and cellular level for CS. It adds an evidence for future molecular targeting therapy to repair CS.
Department of Paediatric Surgery, All India Institute of Medical Sciences (AIIMS), Ansari Nagar, New Delhi - 110 029
Source of Support: None, Conflict of Interest: None
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