IKAROS (IKZF1) Deficiency
Dominant-negative variant: The heterozygous altered gene product inhibits the function of the wild-type one. One of the mechanisms that can cause dominant inheritance.
Hypomorphic variants cause an incomplete loss of gene function. The mechanism can be through reduced expression or reduced function.
Haploinsufficiency occurs when the loss of one of the two copies of a gene leads to disease or phenotype. One of the mechanisms that can cause dominant inheritance.
Germline sequence variants are present in the germ cells and inherited by the progeny. Somatic sequence variants are genetic alterations acquired by the non-germ cells; these can be passed on by mitotic cell division (as in a malignant cell growth), but are not inherited by the progeny.
De novo variants result from genetic alterations that occur in the germ cells of one of the parents or in the fertilized egg; therefore, the parents of the patient are unaffected.
Zinc finger is a protein structural motif stabilized...