HEF Like Protein (HEFL)

C20orf32 is disrupted in addition to NFIA in DGAP104, whereas in DGAP089 disruption of NEGR1 and deletion of 39 genes in del occurred. Besides the disruption or deletion of NFIA, none of the other of these genetic aberrations is shared by more than three cases. Therefore, the most parsimonious explanation for the observed CNS phenotypes is NFIA haploinsufficiency, which is the only common genetic defect shared by all five individuals.

C20orf32 was also disrupted by the 20q13.31 breakpoint. A contribution of C20orf32 disruption to the spinal and kidney phenotypes in DGAP104 is unlikely, however, because C20orf32 expression was not detected in the developing spinal cord or kidney by in situ hybridization.