I have a 5 year old daughter with vitamin K–dependent carboxylase mutations (GGCX) that causes bleeding and non bleeding disorders. She has both vkdb and keutel syndrome. I am trying to find other families with one or both diagnoses to share as there is no one else in my country.
@jennsprung
@lisapraska – I did a bit of poking around early this morning and I think I’ve found a more complete answer for you. I’m sure you know that whole genome sequencing technology hasn’t been around for a really long time at this point, and while the technology is developing at a rapid pace, the science isn’t moving quite as fast. All things considered, they are doing well though! It’s not an easy job to figure out the function and interactions of so many individual genes. White Sutton Syndrome is VERY new- the first publication was accepted in December of 2015. While mutations of POGZ have been noted in prior studies of neurodevelopmental disorders, WSS specifically has only recently been defined phenotypically. There will be more patients identified in coming years. The technology in the past was only able to find very large differences within the genome, then smaller differences (like missing a few genes or duplicated genes), but as time moves on and we learn more about the functions of each individual gene we get closer to what I call “nanotechnology”- the ability to find errors within single genes. The good news is that now that WSS is documented and on the map, there is a greater chance for geneticists to test patients for it, research possibilities, and the opportunity for parents, caregivers and patients to connect and share knowledge and experience. In the meantime, you may find it helpful to connect with parents under “umbrella” diagnoses like paediatric neurodevelopmental disorders, Autism Spectrum Disorders, Developmental Delay or Intellectual Disorders.
Liked by Colleen Young, Connect Director