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 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.

• Authors: Maryam Hassanlou, Maryam Abiri, Sirous Zeinali
• Journal: International journal of reproductive biomedicine (Int J Reprod Biomed) Vol. 20 Issue 12 Pg. 1047-1050 (Dec 2022) ISSN: 2476-4108 [Print] Iran
• PMID: 36819208 (Publication Type: Journal Article)
• Copyright: Copyright © 2022 Hassanlou et al.