@article{Hassanlou_Abiri_Zeinali_2023, title={Prenatal diagnosis of citrullinemia type 1; seven families with c.1168G>A mutation of Argininosuccinate synthetase 1 gene in Southwest Iran: A case series}, volume={20}, url={https://knepublishing.com/index.php/ijrm/article/view/12567}, DOI={10.18502/ijrm.v20i12.12567}, abstractNote={<p><strong>Background:</strong> Citrullinemia type 1 is an autosomal recessive disease resulting in ammonia accumulation in the blood, and if uncontrolled may progress to coma or death in the early months after birth.</p> <p><strong>Cases presentation:</strong> 7 families from Southwest Iran having one or more children in their families or relatives, who died in the early months after birth due to citrullinemia type 1 visited for genetic counseling and prenatal diagnosis. Whole-exome sequencing was performed on peripheral blood specimens and chorionic villus samples. Sanger sequencing confirmed the genetic results. Both parents were identified as carriers for the exon 15 c.1168G&gt;A mutation in each family. The fetus in 6 out of 7 families was homozygote for A substitution on the argininosuccinate synthetase 1 gene.</p> <p><strong>Conclusion:</strong> The presence of a common mutation in the argininosuccinate synthetase 1 gene in all affected families of Southwest Iran shows a possible population cluster in this area.</p> <p><strong>Key words:</strong> Argininosuccinate synthetase, Chorionic villus sampling, Point mutation.</p&gt;}, number={12}, journal={International Journal of Reproductive BioMedicine (IJRM)}, author={Hassanlou, Maryam and Abiri, Maryam and Zeinali, Sirous}, year={2023}, month={Jan.}, pages={1047–1050} }