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Nguyen Thi Phuong Mai

Nguyen Thi Phuong Mai

National Children’s Hospital, Hanoi, Vietnam

Title: Genotypes of Vietnamese patients suspected to Congenital Adrenal Hyperplasia

Biography

Biography: Nguyen Thi Phuong Mai

Abstract

 

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease which is characterized by a deficiency of one of the enzymes involved in the synthesis of cortisol from cholesterol by the adrenal cortex. More than 90% of CAH cases are due to 21-hydroxylase deficiency (21OHD). Mutations in the CYP21A2 gene are affected to 21-hydroxylase activity deficiency. The frequency of mutations in the CYP21A2 gene is due to different populations and there is a correlation between genotype and phenotype. This study was performed in 60 Vietnamese children (120 alleles) suspected with congenital adrenal hyperplasia. Total DNA extraction from whole blood and we use sequencing and MLPA techniques to identified mutations in CYP21A2 gene. We identified 10 cases (16.7%) with heterozygous of mutations; 9 cases (15%) with homozygous of mutations, 19 cases (31.7%) with compound heterozygous of mutations and 22 patients (36.7%) have no mutations. The mutation 30kb deletion is the most common mutation with 17 alleles (14.2%); I172N with 14 alleles (11.7%); I2G with 12 alleles (10%); Promoter conversion with 5 alleles (4.2%); R356W with 4 alleles (3.3%), the others were rare mutations such as V281L; V304M; Q318X.... Sequencing and MLPA techniques were accurate for screening mutations in CYP21A2 gene. The genotype datas will be helpful for the treatment and prenatal testing.