This translation by the NDI Foundation is to assist the lay reader. To provide a clear, accessible interpretation of the original article, we eliminated or simplified some technical detail and complicated scientific language. The NDI Foundation thanks the researchers for their work toward understanding and more effectively treating this disorder.
Every gene comes in pairs, one inherited from each parent.
When a gene is mutated , it can produce defective proteins that could lead to a clinical disorder . In many cases, the presence of a mutated gene is masked because its gene pair is normal and produces normal proteins. When this is the case, the mutated gene is called recessive and has little or no influence on the person carrying it. But if both of the AQP2 gene pair are mutated, then there is no normal AQP2 gene to mask the recessive mutated AQP2 gene. Sometimes only one of a gene pair need be mutated in order to cause an outward abnormality .