Prenatal diagnosis of citrullinemia type 1; seven families with c.1168G > A mutation of Argininosuccinate synthetase 1 gene in Southwest Iran: A case series
Abstract Background: 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. Cases presentation: 7 families from Southwest Iran having one or more children in their famil...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Shahid Sadoughi University of Medical Sciences
2022-12-01
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| Series: | International Journal of Reproductive BioMedicine |
| Subjects: | |
| Online Access: | https://doi.org/10.18502/ijrm.v20i12.12567 |
| Summary: | Abstract Background: 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. Cases presentation: 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 > A mutation in each family. The fetus in 6 out of 7 families was homozygote for A substitution on the argininosuccinate synthetase 1 gene. Conclusion: The presence of a common mutation in the argininosuccinate synthetase 1gene in all affected families of Southwest Iran shows a possible population cluster in this area. |
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| ISSN: | 2476-4108 2476-3772 |