Bowen–Conradi syndrome

Bowen–Conradi syndrome (BCS[1] or BWCNS[2]) 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. 1 2 3 Sondalle SB, Baserga SJ (2014). "Human diseases of the SSU processome". Biochim. Biophys. Acta 1842 (6): 758–64. doi:10.1016/j.bbadis.2013.11.004. PMID 24240090.
  2. 1 2 3 4 Online 'Mendelian Inheritance in Man' (OMIM) 211180
  3. 1 2 Online 'Mendelian Inheritance in Man' (OMIM) 611531
  4. 1 2 Armistead J, Khatkar S, Meyer B, Mark BL, Patel N, Coghlan G, Lamont RE, Liu S, Wiechert J, Cattini PA, Koetter P, Wrogemann K, Greenberg CR, Entian KD, Zelinski T, Triggs-Raine B (2009). "Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome". Am. J. Hum. Genet. 84 (6): 728–39. doi:10.1016/j.ajhg.2009.04.017. PMC 2694972. PMID 19463982.
  5. ↑ De Souza RA (2010). "Mystery behind Bowen-Conradi syndrome solved: a novel ribosome biogenesis defect". Clin. Genet. 77 (2): 116–8. doi:10.1111/j.1399-0004.2009.01304.x. PMID 20096068.
  6. ↑ 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.
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