Question

What is/are the phenotypes when the SALL4 gene is mutated at the molecular level? What process is interfered with?

Answer 1

This gene is present in chromosome 20 and it shows many phenotypes. They are Duane radial ray syndrome, acro renal ocular syndrome, coloboma syndrome, IVIC syndrome, holt oram syndrome and thalidomide embryopathi. These diseases are associated with organs like eyes, limbs, kidney, heart and ears mainly. The symptoms associated with each diseases may overlap with each other.

This SALL4 genes are involved in differentiations of pluripotent stem cells in embryonic stage. That means, this genes control in making proteins which are used in the formation of tissues and organs. So the mutation of this genes will cause interference with the formation of those organs and tissues and that will results in deformities of organs present in the above mentioned diseases.