RGD Reference Report - Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO. - Rat Genome Database

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Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO.

Authors: Sewani, Maham  Nugent, Kimberly  Blackburn, Patrick R  Tarnowski, Jessica M  Hernandez-Garcia, Andres  Amiel, Jeanne  Whalen, Sandra  Keren, Boris  Courtin, Thomas  Rosenfeld, Jill A  Yang, Yaping  Patterson, Marc C  Pichurin, Pavel  McLean, Scott D  Scott, Daryl A 
Citation: Sewani M, etal., Am J Med Genet A. 2020 Apr;182(4):652-658. doi: 10.1002/ajmg.a.61466. Epub 2019 Dec 28.
RGD ID: 155882460
Pubmed: PMID:31883306   (View Abstract at PubMed)
DOI: DOI:10.1002/ajmg.a.61466   (Journal Full-text)

The non-POU domain containing, octamer-binding gene, NONO, is located on chromosome Xq13.1 and encodes a member of a small family of RNA and DNA binding proteins that perform a variety of tasks involved in RNA synthesis, transcriptional regulation and DNA repair. Hemizygous loss-of-function variants in NONO have been shown to cause mental retardation, X-linked, syndromic 34 in males. Features of this disorder can include a range of neurodevelopmental phenotypes, left ventricular noncompaction (LVNC), congenital heart defects, and CNS anomalies. To date only eight cases have been described in the literature. Here we report two unrelated patients and a miscarried fetus with loss-of-function variants in NONO. Their phenotypes, and a review of previously reported cases, demonstrate that hemizygous loss-of-function variants in NONO cause a recognizable genetic syndrome. The cardinal features of this condition include developmental delay, intellectual disability, hypotonia, macrocephaly, structural abnormalities affecting the corpus callosum and/or cerebellum, LVNC, congenital heart defects, and gastrointestinal/feeding issues. This syndrome also carries an increased risk for strabismus and cryptorchidism and is associated with dysmorphic features that include an elongated face, up/down-slanted palpebral fissures, frontal bossing, and malar hypoplasia.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
NONOHumancardiomyopathy  IAGP DNA:SNPs:nonsense mutations more ...RGD 
NonoRatcardiomyopathy  ISONONO (Homo sapiens)DNA:SNPs:nonsense mutations more ...RGD 
NonoMousecardiomyopathy  ISONONO (Homo sapiens)DNA:SNPs:nonsense mutations more ...RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
NONOHumanAbnormality of the eye  IAGP DNA:SNPs:nonsense mutations more ...RGD 
NONOHumanCardiomyopathy  IAGP DNA:SNPs:nonsense mutations more ...RGD 
Objects Annotated

Genes (Rattus norvegicus)
Nono  (non-POU domain containing, octamer-binding)

Genes (Mus musculus)
Nono  (non-POU-domain-containing, octamer binding protein)

Genes (Homo sapiens)
NONO  (non-POU domain containing octamer binding)


Additional Information