Title |
Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing
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Published in |
European Journal of Human Genetics, June 2016
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DOI | 10.1038/ejhg.2016.72 |
Pubmed ID | |
Authors |
Eyal Reinstein, Shay Tzur, Rony Cohen, Concetta Bormans, Doron M Behar |
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.European Journal of Human Genetics advance online publication, 22 June 2016; doi:10.1038/ejhg.2016.72. |
X Demographics
Geographical breakdown
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United States | 1 | 33% |
Unknown | 2 | 67% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 3 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 24 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 6 | 25% |
Student > Ph. D. Student | 3 | 13% |
Student > Bachelor | 2 | 8% |
Student > Doctoral Student | 1 | 4% |
Professor | 1 | 4% |
Other | 4 | 17% |
Unknown | 7 | 29% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 5 | 21% |
Biochemistry, Genetics and Molecular Biology | 4 | 17% |
Neuroscience | 3 | 13% |
Nursing and Health Professions | 1 | 4% |
Psychology | 1 | 4% |
Other | 3 | 13% |
Unknown | 7 | 29% |