Can Non-Coding < b > < i > NR5A1 < /i > < /b > Gene Variants Explain Phenotypes of Disorders of Sex Development?

Conclusion: Evaluation of clinical and phenotypic significance of variants located in a non-coding region of a gene can be complex, and little is known regarding their association with DSD. Nevertheless, based on the important region for interaction with cofactors essential to promote appropriated sex development and on our in vitro results, it is feasible to say that an impact on gene expression can be expected and that this may be correlated with the DSD pathophysiology presented in our patients. Considering the number of cases that remain elusive after screening for the well-known DSD related genes, we emphasize the importance of a careful molecular analysis ofNR5A1 non-coding region which is commonly neglected and might explain some idiopathic DSD cases.Sex Dev
Source: Sexual Development - Category: Biology Source Type: research