Prenatal diagnosis of citrullinemia type ۱; seven families with c.۱۱۶۸G>A mutation of Argininosuccinate synthetase ۱ gene in Southwest Iran: A case series

Background: Citrullinemia type ۱ 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. Cases presentation: ۷ 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 ۱ 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 ۱۵ c.۱۱۶۸G>A mutation in each family. The fetus in ۶ out of ۷ families was homozygote for A substitution on the argininosuccinate synthetase ۱ gene. Conclusion: The presence of a common mutation in the argininosuccinate synthetase ۱ gene in all affected families of Southwest Iran shows a possible population cluster in this area.

کلیدواژه ها:

Argininosuccinate synthetase ، Chorionic villus sampling ، Point mutation. ، آرژینینوسوکسینات سنتتاز ، نمونه­گیری از پرزهای کوریونی ، جهش­های نقطه­ای.