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ABSTRACT: Background
Phelan-McDermid syndrome is characterized by a range of neurodevelopmental phenotypes with incomplete penetrance and variable expressivity. It is caused by a variable size and breakpoint microdeletions in the distal long arm of chromosome 22, referred to as 22q13.3 deletion syndrome, including the SHANK3 gene. Genetic defects in a growing number of neurodevelopmental genes have been shown to cause genome-wide disruptions in epigenomic profiles referred to as epi-signatures in affected individuals.Results
In this study we assessed genome-wide DNA methylation profiles in a cohort of 22 individuals with Phelan-McDermid syndrome, including 11 individuals with large (2 to 5.8 Mb) 22q13.3 deletions, 10 with small deletions (ConclusionWe identified the critical region including the BRD1 gene as responsible for the Phelan-McDermid syndrome epi-signature. Metabolomic profiles of individuals with the DNA methylation epi-signature showed significantly different metabolomic profiles indicating evidence of two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome.
SUBMITTER: Schenkel LC
PROVIDER: S-EPMC7789817 | biostudies-literature | 2021 Jan
REPOSITORIES: biostudies-literature
Schenkel L C LC Aref-Eshghi E E Rooney K K Kerkhof J J Levy M A MA McConkey H H Rogers R C RC Phelan K K Sarasua S M SM Jain L L Pauly R R Boccuto L L DuPont B B Cappuccio G G Brunetti-Pierri N N Schwartz C E CE Sadikovic B B
Clinical epigenetics 20210106 1
<h4>Background</h4>Phelan-McDermid syndrome is characterized by a range of neurodevelopmental phenotypes with incomplete penetrance and variable expressivity. It is caused by a variable size and breakpoint microdeletions in the distal long arm of chromosome 22, referred to as 22q13.3 deletion syndrome, including the SHANK3 gene. Genetic defects in a growing number of neurodevelopmental genes have been shown to cause genome-wide disruptions in epigenomic profiles referred to as epi-signatures in ...[more]