Two CYP21A2 mutations in trans-configuration were identified in the fetus without congenital adrenal hyperplasia (CAH). A case of prenatal diagnosis
Abstract
Congenital adrenal hyperplasia (CAH) is an autosomal recessive congenital disorder. CYP21A2 gene mutations cause 95% of CAH cases. CYP21A2 gene is located on the short arm of chromosome 6 (6p21.3). Here, we present results of prenatal genetic analysis in a family X. with a child suffering by salt-wasting CAH form. CYP21A2 mutations and MICA polymorphisms were identified by PCR-RFLP. Gene copy number was determined by real-time PCR. Two different CYP21A2 mutations in trans-configuration along with a «healthy» gene copy, which was inherited from the father, were identified in the DNA samples from chorionic villi. We have concluded that the fetus has no CAH. The absence of CAH was confirmed after birth.
Keywords
About the Authors
N. S. Osinovskaya
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology
Russian Federation
Russian Federation
I. Yu. Sultanov
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology
Russian Federation
Russian Federation
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Review
For citations:
Osinovskaya N.S., Sultanov I.Yu. Two CYP21A2 mutations in trans-configuration were identified in the fetus without congenital adrenal hyperplasia (CAH). A case of prenatal diagnosis. Medical Genetics. 2017;16(5):39-41. (In Russ.)
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