Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia

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• 作者：Katja K. Dumic^a ; ^{katja.dumic@gmail.com} ; Zorana Grubic^b ; Tony Yuen^c ; Robert C. Wilson^d ; Vesna Kusec^e ; Ingeborg Barisic^f ; Katarina Stingl^b ; Ivona Sansovic^f ; Veselin Skrabic^g ; Miroslav Dumic^h ; Maria I. New^c
• 关键词：21-Hydroxylase deficiency ; CYP21A2 gene ; Genotype ; Phenotype
• 刊名：The Journal of Steroid Biochemistry and Molecular Biology
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：165
• 期：part_PA
• 页码：51-56
• 全文大小：439 K
• 卷排序：165

文摘

Genotype-phenotype correlation in patients with congenital adrenal hyperplasia due to 21-hydroxylased deficiency (21-OHD CAH) is variable. Genotype-phenotype discordance is observed in HLA identical siblings with 21-OHD CAH. Genotyping of family members of 21-OHD CAH patients is important in order to avoid pitfalls in genetic counseling. High frequency of the p.R357W mutation of CYP21A2 gene is found among Croatian 21-OHD CAH patients.