Prenatal diagnosis of citrullinemia type 1; seven families with c.1168G > A mutation of Argininosuccinate synthetase 1 gene in Southwest Iran: A case series.

Autor: Hassanlou M; Farzanegan Campus, Semnan University, Semnan, Iran., Abiri M; 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., Zeinali S; 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.
Jazyk: angličtina
Zdroj: International journal of reproductive biomedicine [Int J Reprod Biomed] 2023 Jan 09; Vol. 20 (12), pp. 1047-1050. Date of Electronic Publication: 2023 Jan 09 (Print Publication: 2022).
DOI: 10.18502/ijrm.v20i12.12567
Abstrakt: 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.
Competing Interests: The authors have no conflict of interest.
(Copyright © 2022 Hassanlou et al.)
Databáze: MEDLINE
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