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The Kleefstra syndrome journey
Published on Jun 14, 202353 Views
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Chapter list
The Journey of Kleefstra syndrome and the EHMT1 gene00:00
Disclosure00:59
Starting 2002…01:12
Starting 2002… - 101:58
Monogenic Neurodevelopmental disorders NDDs02:52
Typical NDD patient we see03:35
The humane genome: chromosomes and genes05:06
Breakthrough 199907:17
Nijmegen XLMR team08:36
Genotypes and Phenotypes09:37
Translocation t (X;9) (p11.23;q34.3)10:19
Breakpoints ZNF81 and EHMT111:13
Subtelomere 9q deletion by FISH11:46
AJHG13:22
EHMT1 after 2006….14:06
Rare genetic syndromes15:48
Aim: optimal treatment trough knowledge integration16:06
Neuropsychiatric deterioration16:32
Psychiatry in Kleefstra syndrome16:54
Severe loss of function post-puberty!17:18
Natural History18:40
Sequential design19:50
Help us investigate20:19
“ Kleefstra syndrome type 2”21:12
What about Kleefstra syndrome type 2……..21:16
2011: Module: Chromatin modification21:30
Finding the other causes22:55
Genetic causes in ‘EHMT1-negative’ patients23:36
Any interactions of these genes/proteins known?24:15
Establishment of EHMT1 associated genotype and phenotype networks25:16
Ongoing collection: KMT2C-related NDD cohort n=9026:04
KMT2C variants compared to EHMT1 and KMT2D26:19
Guideline27:07
Kleefstra syndrome27:10
Consortium aim28:31
Guideline process28:55
Main topics29:12
Final product29:14
Acknowledgements29:24