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Comprehensive EHMT1 variant interpretation provides insight into EHMT1 functions

Published on Jun 14, 202344 Views

Dmitrijs Rots

Kleefstra Syndrome Scientific Conference 2023: “Moving towards the uptake and use of Artificial Intelligence (AI) in research and clinical work”, Ljubljana 2023

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GeneticsMedicine

Chapter list

Comprehensive EHMT1 variant interpretation provides insight into EHMT1 functions00:00
Content00:10
EHMT1: Structure and functions - 100:22
EHMT1: Structure and functions - 200:40
EHMT1: Structure and functions - 300:52
EHMT1: Structure and functions - 401:08
EHMT1: pathogenic variant spectrum - 101:20
EHMT1: pathogenic variant spectrum - 201:35
EHMT1: few known pathogenic missense01:50
Many EHMT1 protein altering variants are identified using exome sequencing02:06
We sought to classify identified PAVs using:02:46
DNA methylation-based test - 103:25
DNA methylation-based test - 204:02
PAV classification results - 104:18
PAV classification results - 204:47
PAVs are a common cause of Kleefstra syndrome - 105:16
PAVs are a common cause of Kleefstra syndrome - 205:37
Discordant PAVs05:56
SET-domain PAVs06:06
Functional testing of the variants - 107:14
Functional testing of the variants - 207:41
Ankyrin-repeat domain variants - 108:09
Ankyrin-repeat domain variants - 208:59
Results of functional testing - 109:32
Results of functional testing - 209:53
Results of functional testing - 310:04
Results of functional testing - 410:16
Results of functional testing - 510:36
How EHMT1 can lose enzymatic activity but do not have Kleefstra syndrome episignature?10:46
EHMT1 functions: summary - 110:57
EHMT1 functions: summary - 211:05
EHMT1 functions: summary - 311:11
EHMT1 functions: summary - 411:24
EHMT1 functions: summary - 511:39
EHMT1 functions: summary - 611:45
Summary about EHMT1 PAVs11:53
EHMT1: N-terminal truncating variants12:31
EHMT1: N-terminal truncating variants - 112:39
EHMT1: N-terminal truncating variants - 212:50
EHMT1: N-terminal truncating variants - 313:15
N-terminal truncating variants - 113:59
N-terminal truncating variants - 214:22
N-terminal truncating variants - 315:15
EpiSign: N-term truncating variants15:37
N-term truncating variants: summary - 116:31
N-term truncating variants: summary - 216:59
N-term truncating variants: summary - 317:24
Take-home messages17:45
Acknowledgements18:38