Structure-Phenotype Correlations of Human CYP21A2 Mutations in Congenital Adrenal Hyperplasia

Shozeb Haider, Barira Islam, Valentina D'Atri, Miriam Sgobba, Chetan Poojari, Li Sun, Tony Yuen, Mone Zaidi, Maria New, Maria New

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73 Citations (Scopus)


Congenital Adrenal Hyperplasia (CAH) is a family of autosomal recessive disorders involving impaired synthesis of cortisol from cholesterol by adrenal cortex. The predominant causes of the disorder are mutations in the CYP21A2 gene that encodes a Cytochrome P450 21-hydroxylase enzyme, which is central to steroidogenesis. The severity of the disease depends upon the extent of impaired enzymatic activity and can be classified under severe Classical form or the mild Non-Classical form, Molecular characterisation of CYP21A2 mutations can be used to predict clinical phenotype and disease severity based upon changes it brings in 21-hydroxylase enzyme structure. A humanized model of CYP21A2 has been used to map and investigate the structural role of all known disease-causing mutations. A structural explanation of clinical manifestation allows us to put forward criteria that might allow the prediction of clinical severity of the disease.
Original languageEnglish
Pages (from-to)2605
Number of pages2610
JournalProceedings of the National Academy of Sciences
Issue number7
Publication statusPublished - 12 Feb 2013


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