The Novel Mutations in the FRAS1 Gene: Two Case Report

Fraser Syndrome (FS) is an extremely rare genetic disorder with a strong pattern of inheritability that follows the autosomal recessive fashion; the fundamental clinical features include congenital anomalies such as cryptophthalmos, syndactyly, as well as, renal damage. The FRAS1 gene is one of the principal genes implicated in FS. The role of genetic mutations in the development of FS has not been comprehensively elucidated for the present, and novel mutations are still being identified. Hence, the current article addresses two patients who were clinically diagnosed with Fraser Syndrome and included two unique mutations (c.7777C˃T; (p. Q2593X) and c.9821G˃C; (p. R3274P) that are found in the FRAS1 gene. Both patients had clinical features concerning Fraser Syndrome including renal abnormalities and cryptophthalmos, which addresses the severe phenotype associated with FRAS1 mutations. These two novel mutations discovered have expanded the genetic heterogeneity of Fraser Syndrome and have extended the mutational list of the FRAS1 gene. These outcomes might have a profound impact on the further approaches to the therapy of FS and methods of genetic counseling and diagnosis.