What is SETBP1-HD you ask? Well, it is the new way to refer to SETBP1 disorder. Earlier this year, two publications recommended referring to the neurodevelopmental disorder caused by a SETBP1 loss-of-function variant as SETBP1 haploinsufficiency disorder. This is an accurate description as haploinsufficiency means one copy of a gene is inactivated or deleted and the remaining functional copy of the gene is not adequate to produce the needed gene product to preserve normal function. SETBP1 haploinsufficiency means that one copy of the SETBP1 gene is inactivated or deleted and the remaining functional copy of the SETBP1 gene is not adequate to produce enough SETBP1 protein to preserve normal function.

This name change recommendation came about for a couple of reasons. One reason is that we work with researchers who work on the SETBP1 gene as a whole. This means that they work on cellular, animal or computational models for SETBP1 disorder and Schinzel-Giedion Syndrome. When researchers or medical professionals want to talk about all disorders caused by changes in the SETBP1 gene, the typical term to use would be SETBP1-related disorders. SETBP1-related disorders sounds very similar to SETBP1 disorder. This caused some confusion in the researcher community. The other reason is that we partner with the Schinzel-Giedion Syndrome Foundation for various initiatives, including our SETBP1 Alliance collaboration which is underway. Again, we ran into issues where it is can be unclear to understand what SETBP1 disorder refers to versus Schinzel-Giedion Syndrome during these conversations.

Back in November 2020, we brought this issue up with our SETBP1 experts. Our SETBP1 community along with the SETBP1 experts threw out different name suggestions for changing SETBP1 disorder including SETBP1 deficiency disorder. This name stuck for about a day 🙂 and it was determined that this may add to confusion as some geneticists might assume our children’s neurodevelopmental disorder is caused by a metabolic deficiency. This does not appear to be the case. We decided together to call it SETBP1 haploinsufficiency disorder formally but that it would be too much of a mouthful for families to share with friends and family. We determined that we would need a shortened version. We stuck with saying SETBP1 disorder in the meantime as the casual term and shortened term. SETBP1-HD is now the SETBP1 community and SETBP1 expert agreed upon term for referring to SETBP1 haploinsufficiency disorder casually or in shortened form. SETBP1-HD is pronounced as /set/ /bee/ /pee/ /one/ /h/ /dee/.

We will gradually update our resources, website, and other materials to use SETBP1 haploinsufficiency disorder and SETBP1-HD in the appropriate places and to remove the reference of SETBP1 disorder. It will take time as this has been the official name since 2017. We will also update our materials to refer to all disorders caused by changes in the SETBP1 gene as SETBP1-related disorders.