Lee et al., 2020
- Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.
Nature communications
11:3698
Full text @ Nat. Commun.
| Marker Type | Symbol | Name |
|---|---|---|
| Gene | aaas | achalasia, adrenocortical insufficiency, alacrimia |
| Gene | ccnd1 | cyclin D1 |
| Gene | cdh5 | cadherin 5 |
| Gene | cdkn1a | cyclin dependent kinase inhibitor 1A |
| Gene | cldn5b | claudin 5b |
| Gene | eda | ectodysplasin A |
| Gene | edar | ectodysplasin A receptor |
| Gene | eftud2 | elongation factor Tu GTP binding domain containing 2 |
| Gene | eif4a3 | eukaryotic translation initiation factor 4A3 |
| Gene | etsrp | ETS1-related protein |
| Gene | fam50a | family with sequence similarity 50 member A |
| Gene | gss | glutathione synthetase |
| Gene | her4.1 | hairy-related 4, tandem duplicate 1 |
| Gene | huwe1 | HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 |
| Gene | ice1 | KIAA0947-like (H. sapiens) |
| Gene | mdm2 | MDM2 proto-oncogene |
| Gene | mettl16 | methyltransferase 16, N6-methyladenosine |
| Gene | pcna | proliferating cell nuclear antigen |
| Gene | prpf3 | PRP3 pre-mRNA processing factor 3 homolog (yeast) |
| Gene | prpf31 | PRP31 pre-mRNA processing factor 31 homolog (yeast) |
| Gene | prpf4 | pre-mRNA splicing tri-snRNP complex factor PRPF4 |
| Gene | prpf6 | PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) |
| Gene | prpf8 | pre-mRNA processing factor 8 |
| Gene | sf3b4 | splicing factor 3b, subunit 4 |
| Gene | snapc4 | small nuclear RNA activating complex, polypeptide 4 |
| Gene | snrnp200 | small nuclear ribonucleoprotein 200 (U5) |
| Gene | snrpe | small nuclear ribonucleoprotein polypeptide E |
| Gene | tp53 | tumor protein p53 |
| Gene | txnl4a | thioredoxin-like 4A |
| Gene | vwa7 | von Willebrand factor A domain containing 7 |