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

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Published on: October 15, 2018

M Peter1, K Bünger, J Sólyom

  • 1Department of Paediatrics, Christian-Albrechts-University of Kiel, Germany. m.peter@pediatrics.uni-kiel.de

European Journal of Pediatrics
|June 13, 1998
PubMed

Insights

Genetic analysis identified a Thr185Ile mutation in the CYP11B2 gene in a patient with corticosterone methyl oxidase (CMO) deficiency type II. This mutation likely reduces enzyme activity, causing salt-loss and hyperkalaemia.

Area of Science:

  • Endocrinology
  • Molecular Genetics
  • Pediatric Medicine

Background:

  • Corticosterone methyl oxidase (CMO) deficiency type II is a rare genetic disorder.
  • It is characterized by life-threatening salt-loss and hyperkalaemia, often triggered by infection.
  • Diagnosis is typically based on plasma and urinary steroid profiles.

Observation:

  • A molecular genetic study was performed on one of two previously reported boys with CMO deficiency type II.
  • The patient exhibited an elevated plasma 18-hydroxycorticosterone/aldosterone ratio, a key indicator of CMO deficiency type II.
  • Sequence analysis of the CYP11B2 gene was conducted.

Findings:

  • A homozygous single base exchange in codon 185 of the CYP11B2 gene was identified.
  • This genetic alteration resulted in a Thr185Ile amino acid substitution.
  • The identified mutation was found in the patient diagnosed with CMO deficiency type II.

Implications:

  • The Thr185Ile mutation in the CYP11B2 gene is associated with CMO deficiency type II.
  • This mutation may alter the enzyme's secondary structure, leading to decreased activity.
  • Understanding the molecular basis of CMO deficiency type II can inform diagnosis and potential therapeutic strategies.
Abstract

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