A cost-effective method for detecting mutations in the human FAM111B gene associated with POIKTMP syndrome

Abstract Background Mutations of the human FAM111B gene are associated with hereditary fibrosing poikiloderma tendon contracture, myopathy, and pulmonary fibrosis (POIKTMP), a rare autosomal dominant multi-systemic disease. To date, total 36 cases documented, eleven mutations identified confirmed by Whole-Exome Sequencing Sanger sequencing. However, these methods require certain level expertise. The was annotated using SNAPGENE tool to identify various restriction enzymes. enzymes that cut at positions where interest have been reported were selected. method implemented DNA samples extracted from skin fibroblast collected an affected South African family unrelated control. Results findings showed mutational sites investigated this method, ten can be including known mutation NM_198947.4: c.1861T>G (pTyr621Asp) POIKTMP in Africa. Conclusions Limited access molecular diagnosis contributes why is rarely diagnosed. Our study describes inexpensive PCR–RFLP screen for mutations. used as cost-effective diagnosing POIKTMP, it does not having robust experience biology.