Session 7 - WSS Conference 2017 - What is Wiedemann-Steiner Syndrome (WSS)? - part 2 of 2
Автор: WSS Foundation
Загружено: 2017-11-05
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Описание:
Learn about Wiedemann-Steiner Syndrome (WSS) from Dr. Wendy Jones.
Dr. Jones shares why it is called WSS, what is WSS, typical WSS features, what causes WSS, what are DNA, genes, and chromosomes, what does the KMT2A gene and protein (an enzyme) do, what is a de novo alteration (mutation), and can you inherit WSS. She then shares results from her research including genetic findings as well as common features, learning strengths and challenges, and behaviors of people with WSS. Lastly, Dr. Jones shared updated weight and height charts and highlights future research plans.
Summary
(1) The KMT2A gene gives the body instructions to make a protein called KMT2A
(2) The KMT2A protein is an enzyme
(3) The KMT2A enzyme tells DNA to be ‘open’ (be less tightly wound up) or ‘closed’ (be more tightly wound up) by catalyzing a reaction on the proteins that DNA wraps around
(4) Having an alteration in one copy of the KMT2A gene affects the manufacture of a number of proteins in the body and this likely causes the features of WSS
Session footage from the 2017 International WSS Conference held in Orlando, Florida on October 21 & 22.
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