Carrier Rate of Citrullinemia, Type I in Individual Ethnic Groups Using an Expanded Carrier Test
Purpose: To identify
population-specific carrier frequencies for Citrullinemia Type 1. Better
knowledge of population specific
carrier frequencies improves carrier testing and genetic counseling;
however, prior reports have not captured data in specific ethnic
groups. Identifying a fetus at risk for CTLN1 could allow prenatal
planning by arranging for appropriate post-partum care to mitigate
or prevent long lasting neurological damage with prompt use of metabolic
therapy.
Methods: Retrospective review of 11,132 individuals who underwent expanded carrier testing utilizing a genotyping panel. The CTLN1 variants included were the common 1168G>A variant, and the rarer 421-2A>G/910C>T variant. Adjusting for the genotyping panel’s detection rate we calculated the carrier frequency for specific ethnic groups.
Results: Pan-ethnic carrier frequency of 1:383 (10*2.9/11,132), corresponding to a population prevalence of 1: 575,000. Adjusted carrier rates are: 1/124 in the Ashkenazi Jewish group; 1/392 in the Hispanic group;1/422 in the Caucasian/White group.
Conclusion: As expanded carrier testing utilization increases, it is important to continue to reassess carrier and disease frequencies of rare conditions with large ethnically diverse cohorts. This is the first report, to our knowledge, to document CTLN1 carrier rate in individual ethnic groups. This knowledge can guide preconception and prenatal counseling enabling patients and providers to identify resources and neonatal management options.
Precis: CTLN1 carrier rates vary amongst different ethnic groups
To read more about this article: Gynecology & Womens Health
To know more about journals: Iris Publishers
For more information: https://irispublishers.com/wjgwh/fulltext/carrier-rate-of-citrullinemia-type-i-in-individual-ethnic-groups-using-an-expanded-carrier-test.ID.000531.php
Methods: Retrospective review of 11,132 individuals who underwent expanded carrier testing utilizing a genotyping panel. The CTLN1 variants included were the common 1168G>A variant, and the rarer 421-2A>G/910C>T variant. Adjusting for the genotyping panel’s detection rate we calculated the carrier frequency for specific ethnic groups.
Results: Pan-ethnic carrier frequency of 1:383 (10*2.9/11,132), corresponding to a population prevalence of 1: 575,000. Adjusted carrier rates are: 1/124 in the Ashkenazi Jewish group; 1/392 in the Hispanic group;1/422 in the Caucasian/White group.
Conclusion: As expanded carrier testing utilization increases, it is important to continue to reassess carrier and disease frequencies of rare conditions with large ethnically diverse cohorts. This is the first report, to our knowledge, to document CTLN1 carrier rate in individual ethnic groups. This knowledge can guide preconception and prenatal counseling enabling patients and providers to identify resources and neonatal management options.
Precis: CTLN1 carrier rates vary amongst different ethnic groups
To know more about journals: Iris Publishers
For more information: https://irispublishers.com/wjgwh/fulltext/carrier-rate-of-citrullinemia-type-i-in-individual-ethnic-groups-using-an-expanded-carrier-test.ID.000531.php
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