Sur le site Internet de Déchiffrer, vous pouvez consulter une liste mise à jour de tous les syndromes de microdélétion et de microduplication.
De plus en plus de syndromes de microduplication et de microdélétion ont été identifiés ces dernières années, avec l'utilisation croissante de l'aCGH dans la recherche et la pratique clinique. Ils peuvent être classés selon plusieurs critères :
Critère de récidive.
CNV récurrentes
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1.
Pös O, Radvanszky J, Buglyó G, Pös Z, Rusnakova D, Nagy B, et al. DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects. Biomedical Journal [Internet]. 2021 Oct 1 [cited 2022 Aug 17];44(5):548–59. Available from: https://www.sciencedirect.com/science/article/pii/S2319417021000093
- Ils sont flanqués de régions répétitives courtes (LCR), qui donnent fréquemment lieu à des points d'arrêt NAHR (recombinaison homologue non allélique).
- Plusieurs individus non liés partagent les mêmes points de rupture.
- Ils sont généralement neufs.
- Ils surviennent plus fréquemment que prévu taux de mutation, ils sont donc comparativement plus fréquents.
CNV non récurrentes.
- Ils ont tendance à donner lieu à des phénotypes plus variables.
- Ils ont des points de rupture différents pour chaque individu/famille, qui se sont produits de manière aléatoire dans tout le génome, donnant lieu à des délétions-duplications lorsque des mécanismes de réparation (NHEJ, non-homologous end-joining) sont intervenus.
- Ils sont généralement hérités, les points de rupture seront donc caractéristiques de chaque famille.
- Il existe une région commune à tous les individus présentant le même syndrome (SRO, plus petite région de chevauchement), qui abrite les gènes à impact phénotypique.
- Ils sont moins fréquents.
Critère de pénétration
CNV à pénétration complète
- Son síndromes «clásicos», que se describieron a partir de la identificación del fenotipo clínico.
- Ils sont généralement nommés avec un éponyme qui fait référence à l'auteur qui les a décrits pour la première fois.
- Suelen ser «de novo», ya que la repercusión que producen sobre los indivíduos impide su reproducción.
- Passez votre souris sur l'image pour rechercher certains des différents syndromes classiques de microdélétion.
Pénétrance incomplète CNV
- Ils portent généralement le nom de la région chromosomique qu'ils affectent.
- Son síndromes «nuevos», identificados con más frecuencia a partir de la implementación de técnicas de diagnóstico molecular (aCGH).
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1.
Rosenfeld JA, Coe BP, Eichler EE, Cuckle H, Shaffer LG. Estimates of penetrance for recurrent pathogenic copy-number variations. Genetics in Medicine [Internet]. 2013 [cited 2018 July 16];15(6):478–81. Available from: http://www.nature.com/articles/gim2012164
- Ils ont une pénétrance incomplète, il existe donc des porteurs asymptomatiques et la transmission familiale se produit plus fréquemment à partir d'un individu qui n'était pas au courant de son état.
- De plus, la coexistence de plusieurs variants pathogènes chez le même individu est plus courante.
