SON SON DNA binding protein

Gene info

Synonyms

DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914

Previous symbol

C21orf50

External ID

HGNC: 11183
Entrez Gene: 6651
Ensembl: ENSG00000159140
UCSC: uc061zrh.1
OMIM: 182465
UniProtKB: P18583

Disease info

Disease

CHD Phenotype

  • Atrial septal defect
  • Persistent ductus arteriosus
  • Ventricular septal defect
  • Aortic valve regurgitation

Extra Cardiac Phenotype

Short stature , Failure to thrive, Facial asymmetry , Frontal bossing, Midface retraction, Short philtrum, Low-set ears , Downslanting palpebral fissures , Deep-set eyes, Cortical visual impairment , Hypermetropia , Optic atrophy, Strabismus , Broad nasal bridge, Depressed nasal bridge, Small mouth, Thin upper lip, High-arched palate, Cleft palate , Dental abnormalities , Rib abnormalities , Feeding difficulties, Gastrointestinal malformations, Urogenital malformations , Single kidney, Horseshoe kidney , Dysplastic kidney , Joint contractures , Joint hypermobility , Craniosynostosis , Scoliosis , Kyphosis, Hemivertebrae , Small hands , Small feet, Hypotonia , Delayed development, Intellectual disability, Developmental regression, Seizures, Hypotonia , Abnormal gyration patterns , Enlarged ventricles , Thin corpus callosum , Arachnoid cysts , Cerebellar hypoplasia, White matter abnormalities

Incomplete penetrance

No

Variable expressivity

Yes

Animal model

Mouse study

MGI: no cardiovascular defect recorded

MGI ID

Variant info

Clinvar

SON

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for SON: BED file

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Selected References

  1. Takenouchi, T., Miura, K., Uehara, T., Mizuno, S., & Kosaki, K. (2016). Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype. American Journal of Medical Genetics Part A, 170(10), 2587–2590. DOI:10.1002/ajmg.a.37761 PMID:27256762
  2. Tokita, M. J., Braxton, A. A., Shao, Y., Lewis, A. M., Vincent, M., Küry, S., … Walkiewicz, M. A. (2016). De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. The American Journal of Human Genetics, 99(3), 720–727. DOI:10.1016/j.ajhg.2016.06.035 PMID:27545676
  3. Kim, J.-H., Shinde, D. N., Reijnders, M. R. F., Hauser, N. S., Belmonte, R. L., Wilson, G. R., … Petrovski, S. (2016). De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. The American Journal of Human Genetics, 99(3), 711–719. DOI:10.1016/j.ajhg.2016.06.029 PMID:27545680