Bowen–Conradi syndrome
| Bowen–Conradi syndrome | |
|---|---|
| Other names: BCS[1] or BWCNS[2] | |
 | |
| EMG1 in Bowen-Conradi syndrome | |
 |
Bowen–Conradi syndrome is a disease in humans that can affect children.[2] The disease is due to an autosomal recessive abnormality of the EMG1 gene, which plays a role in small ribosomal subunit (SSU) assembly.[1][3] The preponderance of diagnoses has been in North American Hutterite children, but BWCNS can affect other population groups.[2][4]
BWCNS is a ribosomopathy.[1][5] A D86G mutation of EMG1 destroys an EcoRV restriction endonuclease site in the most highly conserved region of the protein.[3]
Skeletal dysmorphology is seen[2][4] and severe prenatal and postnatal growth failure usually leads to death by one year of age.[6]
References
- ↑ 1.0 1.1 1.2 "Human diseases of the SSU processome". Biochim. Biophys. Acta. 1842 (6): 758–64. 2014. doi:10.1016/j.bbadis.2013.11.004. PMC 4058823. PMID 24240090.
{{cite journal}}: Unknown parameter|authors=ignored (help) - ↑ 2.0 2.1 2.2 2.3 Online Mendelian Inheritance in Man (OMIM): 211180
- ↑ 3.0 3.1 Online Mendelian Inheritance in Man (OMIM): 611531
- ↑ 4.0 4.1 "Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome". Am. J. Hum. Genet. 84 (6): 728–39. 2009. doi:10.1016/j.ajhg.2009.04.017. PMC 2694972. PMID 19463982.
{{cite journal}}: Unknown parameter|authors=ignored (help) - ↑ "Mystery behind Bowen-Conradi syndrome solved: a novel ribosome biogenesis defect". Clin. Genet. 77 (2): 116–8. 2010. doi:10.1111/j.1399-0004.2009.01304.x. PMID 20096068.
{{cite journal}}: Unknown parameter|authors=ignored (help) - ↑ Armistead J, Patel N, Wu X, et al. (2015). "Growth arrest in the ribosomopathy, Bowen-Conradi syndrome, is due to dramatically reduced cell proliferation and a defect in mitotic progression". Biochim. Biophys. Acta. 1852 (5): 1029–37. doi:10.1016/j.bbadis.2015.02.007. PMID 25708872.