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Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing.

ABSTRACT: Pathogenic variants in the NONO gene have been most recently implicated in X-linked intellectual disability syndrome. This observation has been supported by studies of NONO-deficient mice showing that NONO has an important role in regulating inhibitory synaptic activity. Thus far, the phenotypic spectrum of affected patients remains limited. We applied whole exome sequencing to members of a family in which the proband was presented with a complex phenotype consisting of developmental delay, dysmorphism, and non-compaction cardiomyopathy. Exome analysis identified a novel de novo splice-site variant c.1171+1G>T in exon 11 of NONO gene that is suspected to abolish the donor splicing site. Thus, we propose that the phenotypic spectrum of NONO-related disorder is much broader than described and that pathogenic variants in NONO cause a recognizable phenotype.

SUBMITTER: Reinstein E

PROVIDER: S-EPMC5110068 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature

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Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing.

Reinstein Eyal E Tzur Shay S Cohen Rony R Bormans Concetta C Behar Doron M DM

European journal of human genetics : EJHG 20160622 11

Pathogenic variants in the NONO gene have been most recently implicated in X-linked intellectual disability syndrome. This observation has been supported by studies of NONO-deficient mice showing that NONO has an important role in regulating inhibitory synaptic activity. Thus far, the phenotypic spectrum of affected patients remains limited. We applied whole exome sequencing to members of a family in which the proband was presented with a complex phenotype consisting of developmental delay, dysm ...[more]

PMID: 27329731

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