BEGIN:VCALENDAR
VERSION:2.0
PRODID:https://murmitoyen.com/events/vanille/udem/
X-WR-TIMEZONE:America/Montreal
BEGIN:VEVENT
UID:69dad4c22a03a
DTSTAMP:20260411T190954
DTSTART:20180216T120000
SEQUENCE:0
TRANSP:OPAQUE
DTEND:20180216T130000
URL:https://murmitoyen.com/events/vanille/udem/detail/808400-genetic-archit
 ecture-of-congenital-heart-defects
LOCATION:CHU Sainte-Justine\, 3175\, Chemin de la Côte-Sainte-Catherine\, 
 Montréal\, QC\, Canada\, H3T 1C5
SUMMARY:Genetic architecture of congenital heart defects
DESCRIPTION:Conférence scientifique | Centre de recherche du CHU Sainte-Ju
 stine  Conférence de Marc-Philip Hitz\, MD\, PhD (invité pour l'axe Pa
 thologies fœtomaternelles et néonatales). Responsable du groupe en gén
 étique cardiovasculaire\, spécialiste en génétique clinique et en péd
 iatrie\, Département des cardiopathies congénitales et cardiologie pédi
 atrique\, Hôpital universitaire de Schleswig-Holstein\, Allemagne
\nRésu
 mé : Congenital Heart Defects (CHD) are one of the most common birth defe
 cts. Several genes have been identified to cause monogenic forms of CHD in
  humans and mice. Nevertheless\, the small absolute sibling recurrence ris
 k (~2.7%) suggests a burden of de novo mutations\, and/or incomplete penet
 rance for many of the observed cases. Recent studies have highlighted the 
 role of de novo protein-truncating variants (PTVs) among ‘syndromic’ p
 atients with a distinct facial appearance and extra-cardiac manifestations
 . Exome sequencing of 1\,891 probands (1\,365 trios\, 68 probands from 32 
 multi-sibling families and 458 singletons) highlighted the genetic archite
 cture among syndromic and non-syndromic cases. This study included 610 syn
 dromic (S-CHD) and 1\,281 non-syndromic cases (NS-CHD). Patient assignment
  to both groups was taking into account a distinct facial appearance\, and
  a presentation of at least one reported extra-cardiac malformation for S-
 CHD cases. Consistent with recent findings a significant enrichment of de 
 novo PTVs in known CHD-associated genes among the S-CHD cases was identifi
 ed. In addition\, it was highlighted that NS-CHD cases show a significant 
 enrichment of PTVs inherited from unaffected parents in known CHD genes. F
 urthermore\, we were able to link three genome-wide significant genes CHD4
 \, CDK13 and PRKD1 to a novel S-CHD disorder caused by DNMs.
END:VEVENT
BEGIN:VTIMEZONE
TZID:America/Montreal
X-LIC-LOCATION:America/Montreal
END:VTIMEZONE
END:VCALENDAR