A heterozygous missense variant in DLX3 leads to uterine leiomyomas and pregnancy losses in a consanguineous Iranian family

Highlights

• •First report of a missense DLX3 variant in an Iranian family with myomas and pregnancy losses.
• •First identified likely pathogenic DLX3 variant in N-term transactivation domain.
• •Segregation of the variant with disease within the family.
• •Prediction of damaging activity of the variant by physico-chemical parameters analysis.
• •Mini-review on the role of DLX3 in embryonic development and DLX3-associated syndromes.

https://www.sciencedirect.com/science/article/abs/pii/S0378111923001336