Dwarfism or short stature is a condition when human height is less than 147 cm in adult form. We enrolled two families with multiple siblings suffering from dwarfism and Whole exome sequencing (WES) followed by Sanger sequencing approach was used to report genetic base of their dwarfism. Two novel missense mutations, c.2407C > A, p.Pro803Thr in FGFR1 gene in family one and c.1779C > G, p.F539L in FGFR3 gene in second family were identified as the genetic cause of their phenotype. Sanger sequencing confirmed these mutations in all enrolled patients and mutations followed autosomal dominant mode of inheritance. Multiple sequence alignment by Clustal Omega revealed that domains of FGFR1 and FGFR3 containing mutations are highly conserved. Computational 3D structure generations through homology modeling approach revealed no observable differences in FGFR1 and FGFR3 protein structures when compared between control and patients indicating that observed mutations are responsible for functional changes in proteins.
