Volume 20, Issue 12 (December 2022)                   IJRM 2022, 20(12): 1047-1050 | Back to browse issues page

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Hassanlou M, Abiri M, Zeinali S. Prenatal diagnosis of citrullinemia type 1; seven families with c.1168G>A mutation of Argininosuccinate synthetase 1 gene in Southwest Iran: A case series. IJRM 2022; 20 (12) :1047-1050
URL: http://ijrm.ssu.ac.ir/article-1-2318-en.html
1- Farzanegan Campus, Semnan University, Semnan, Iran. , m.hassanlou@semnan.ac.ir
2- Department of Medical Genetics, Faculty of Medicine, Iran University of Medical Sciences, Tehran, Iran. Shahid Akbarabadi Clinical Research Development Unit, Iran University of Medical Sciences, Tehran, Iran.
3- Dr. Zeinali's Medical Genetics Laboratory, Kawsar Human Genetics Research Center, Tehran, Iran. Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.
Abstract:   (218 Views)
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 1 gene in all affected families of Southwest Iran shows a possible population cluster in this area.

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Type of Study: Case Report | Subject: Reproductive Genetics

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