ArticleInternational journal of reproductive biomedicine2022
Prenatal diagnosis of citrullinemia type 1; seven families with c.1168G
Article in International journal of reproductive biomedicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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 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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