Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
| Affiliation auteurs | !!!! Error affiliation !!!! |
| Titre | Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants |
| Type de publication | Journal Article |
| Year of Publication | 2019 |
| Auteurs | Pizzo L, Jensen M, Polyak A, Rosenfeld JA, Mannik K, Krishnan A, McCready E, Pichon O, Le Caignec C, Van Dijck A, Pope K, Voorhoeve E, Yoon J, Stankiewicz P, Cheung SWai, Pazuchanics D, Huber E, Kumar V, Kember RL, Mari F, Curro A, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Mandara L, Vincent M, Nizon M, Mercier S, Beneteau C, Blesson S, Martin-Coignard D, Mosca-Boidron A-L, Caberg J-H, Bucan M, Zeesman S, Nowaczyk MJM, Lefebvre M, Faivre L, Callier P, Skinner C, Keren B, Perrine C, Prontera P, Marle N, Renieri A, Reymond A, R. Kooy F, Isidor B, Schwartz C, Romano C, Sistermans E, Amor DJ, Andrieux J, Girirajan S |
| Journal | GENETICS IN MEDICINE |
| Volume | 21 |
| Pagination | 816-825 |
| Date Published | APR |
| Type of Article | Article |
| ISSN | 1098-3600 |
| Mots-clés | 16p11.2 deletion, Autism, CNV, modifier, phenotypic variability |
| Résumé | {Purpose: To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive variants. Methods: We analyzed quantitative clinical information, exome sequencing, and microarray data from 757 probands and 233 parents and siblings who carry disease-associated variants. Results: The number of rare likely deleterious variants in functionally intolerant genes (''other hits'') correlated with expression of neurodevelopmental phenotypes in probands with 16p12.1 deletion (n=23 |
| DOI | 10.1038/s41436-018-0266-3 |