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Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II

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Abstract

Two boys presenting with infection-triggered, life-threatening salt-loss and hyperkalaemia were published in 1991 in the European Journal of Pediatrics. In both boys, the diagnosis of corticosterone methyl oxidase (CMO) deficiency type II has been established on the basis of determinations of plasma and urinary steroids. We had the opportunity to perform a molecular genetic study in one of the two boys. This boy had an elevated plasma 18-hydroxycorticosterone/aldosterone ratio which is pathognomonic for CMO deficiency type II. Sequence analysis of the CYP11B2 gene revealed a homozygous single base exchange in codon 185 of CYP11B2 causing an amino acid substitution Thrl85Ile.

Conclusion

A Thr 18511e mutation in the CYP11B2 gene was found in a patient with CMO deficiency type II. This mutation may change the secondary structure of the enzyme leading to its decreased activity.

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Abbreviations

CMO:

corticosterone methyl oxidase

P450c11:

11 β-hydroxylase

P450c11 Aldo:

aldosterone synthase

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Correspondence to M. Peter or K. Bünger or J. Sölyom or W. G. Sippell.

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Peter, M., Bünger, K., Sölyom, J. et al. Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II. Eur J Pediatr 157, 378 (1998). https://doi.org/10.1007/s004310050833

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Key words

  • Congenital hypoaldosteronism
  • Aldosterone synthase
  • CYP11B2 gene
  • CMO type II
  • Mineralocorticoids