Bowen–Conradi syndrome is a disease in humans that can affect children.
The disease is due to an
autosomal recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...
abnormality of the ''
EMG1''
gene, which plays a role in
small ribosomal subunit (SSU) assembly.
The preponderance of diagnoses has been in North American
Hutterite children, but BWCNS can affect other population groups.
BWCNS is a
ribosomopathy Ribosomopathies are diseases caused by abnormalities in the structure or function of ribosomal component proteins or rRNA genes, or other genes whose products are involved in ribosome biogenesis.
Ribosomes
Ribosomes are essential for protein synt ...
.
A D86G
mutation of ''
EMG1'' destroys an
EcoRV
''Eco''RV (pronounced "eco R five") is a type II restriction endonuclease isolated from certain strains of ''Escherichia coli''. It has the alternative name Eco32I.
In molecular biology, it is a commonly used restriction enzyme. It creates blun ...
restriction
endonuclease
Endonucleases are enzymes that cleave the phosphodiester bond within a polynucleotide chain. Some, such as deoxyribonuclease I, cut DNA relatively nonspecifically (without regard to sequence), while many, typically called restriction endonucleases ...
site in the most highly conserved region of the protein.
Skeletal
dysmorphology is seen
and severe prenatal and postnatal growth failure usually leads to death by one year of age.
References
{{DEFAULTSORT:Bowen-Conradi syndrome
Congenital disorders
Ribosomopathy
Rare syndromes