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

ABSTRACT: 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.

SUBMITTER: Egloff M 

PROVIDER: S-EPMC5974246 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature

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

Egloff Matthieu M   Nguyen Lam-Son LS   Siquier-Pernet Karine K   Cormier-Daire Valérie V   Baujat Geneviève G   Attié-Bitach Tania T   Bole-Feysot Christine C   Nitschke Patrick P   Vekemans Michel M   Colleaux Laurence L   Malan Valérie V  

European journal of human genetics : EJHG 20180226 6

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  ...[more]

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