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intrafamilial distribution of CYP21A2 gene mutations in Southeastern Turkey

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this article demonstrates that distribution of intrafamilial CYP21A2 gene mutations in Turkish children in Southeastern Turkey.


The genotype-phenotype relationship shows regional variability in 21-hydroxylase deficiency (21-OHD) caused by mutations in the CYP21A2 gene. This study focuses on the genotype-phenotype compatibility between patients and their siblings in a region where consanguineous marriage is common. This study showed that the most common alleles were IN2G-Q381X-R356W-P30L-V281L in the children with 21-OHD and asymptomatic siblings, and that the phenotype can be predicted from the genotype except for the P30L-V281L. This result suggests that the most common mutations in 21-OHD are similar to previous reports, but that the genotype-phenotype compatibility is good except for group C showing regional variability, and that genotyping of siblings discovered new patients

A Diagnostic Scoring System to Distinguish Precocious Puberty from Premature Thelarche based on Clinical and Laboratory Findings Murat Karaoglan
Gaziantep Universitesi

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This page is a summary of: The distribution of intrafamilial CYP21A2 mutant alleles and investigation of clinical features in Turkish children and their siblings in Southeastern Anatolia, Journal of Pediatric Endocrinology and Metabolism, December 2019, De Gruyter,
DOI: 10.1515/jpem-2019-0187.
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