Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance. - Université Paris Cité Accéder directement au contenu
Article Dans Une Revue European Journal of Human Genetics Année : 1970

Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance.

Résumé

Several hypotheses have been proposed to explain the phenotypic variability between parent and offspring carrying the same genomic imbalance, including unmasking of a recessive variant by a chromosomal deletion. Here, 19 patients with neurodevelopmental disorders harboring a rare deletion inherited from a healthy parent were investigated by whole-exome sequencing to search for SNV on the contralateral segment. This strategy allowed us to identify a candidate variant in two patients in the NUP214 and NCOR1 genes. This result demonstrates that the analysis of the genes included in non-deleted contralateral allele is a key point in the etiological investigation of patients harboring a deletion inherited from a parent. Finally, this strategy is also an interesting approach to identify new recessive intellectual disability genes.

Dates et versions

hal-02087837 , version 1 (02-04-2019)

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Citer

Matthieu Egloff, Lam-Son Nguyen, Karine Siquier-Pernet, Valérie Cormier-Daire, Geneviève Baujat, et al.. Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance.. European Journal of Human Genetics, 1970, 26 (6), pp.912-918. ⟨10.1038/s41431-018-0124-4⟩. ⟨hal-02087837⟩

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