title: A missense mutation (GGC[435Gly]-->AGC[Ser]) in exon 8 of the CYP11B2 gene inherited in Japanese patients with congenital hypoaldosteronism.
abstract: OBJECTIVE
  To clarify the underlying molecular mechanism of corticosterone methyl oxidase type II (CMO II) deficiency, Japanese patients newly diagnosed with CMO II deficiency were investigated.
  
  
  METHODS
  We analyzed the patients' genomic DNA sequence on all 9 exons of the CYP11B2 gene. In addition, restriction fragment length polymorphism (RFLP) analysis and expression studies were performed.
  
  
  RESULTS
  The analysis showed that the patients homozygously retained a missense mutation, Gumacr;GC[435Gly]-->Aumacr;GC[Ser], in the CYP11B2 gene. Expression studies indicated that the steroid 18-hydroxylase/oxidase activities of the mutant enzyme were substantially reduced.
  
  
  CONCLUSIONS
  These results support the hypothesis that this mutation causes CMO II deficiency in the patients, and are in accordance with our theory that the partial loss of P-450(C18) activities causes CMO II deficiency.
authors: Department of Medical Chemistry, Kochi Medical School, Kochi, Japan. kuribaya@kochi-ms.ac.jp
authors: Isao
authors: I
authors: Kuribayashi
authors: Hideaki
authors: H
authors: Kuge
authors: Romero Jovel
authors: RJ
authors: Santa
authors: Aldahoodi Ziyad
authors: AZ
authors: Mutlaq
authors: Naohito
authors: N
authors: Yamasaki
authors: Takashi
authors: T
authors: Furuno
authors: Akio
authors: A
authors: Takahashi
authors: Shoichi
authors: S
authors: Chida
authors: Toshiro
authors: T
authors: Nakamura
authors: Fumio
authors: F
authors: Endo
authors: Yoshinori
authors: Y
authors: Doi
authors: Saburo
authors: S
authors: Onishi
authors: Yutaka
authors: Y
authors: Shizuta
mesh_terms: D019943:Amino Acid Substitution; D044466:Asian People; D001483:Base Sequence; D019405:Cytochrome P-450 CYP11B2 / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D005091:Exons / Q000235:genetics; D006801:Humans; D006994:Hypoaldosteronism / Q000151:congenital* / Q000201:enzymology / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D017422:Sequence Analysis, DNA
chemical_list: D019405:Cytochrome P-450 CYP11B2; C025352:corticosterone methyl oxidase II