title: Novel homozygous p.Y395X mutation in the CYP11B1 gene found in a Vietnamese patient with 11β-hydroxylase deficiency.
abstract: BACKGROUND
  The deficiency of steroid 11β-hydroxylase is caused by mutations in the CYP11B1 gene and is the second major form of congenital adrenal hyperplasia associated with hypertension.
  
  
  OBJECTIVE
  The objective of this study was to screen the CYP11B1 gene for mutations in one Vietnamese male suffering from congenital adrenal hyperplasia.
  
  
  METHODS
  The patient (46,XY) had congenital adrenal hyperplasia. The clinical manifestations presented precocious puberty, hyper-pigmentation and high blood pressure at 4 years.
  
  
  RESULTS
  The patient was a homozygous carrier of a novel mutation located in exon 7 containing a premature stop codon instead of tyrosine at 395 (p.Y395X).
  
  
  CONCLUSIONS
  We have identified a novel mutant of the CYP11B1 gene in one Vietnamese family associated with phenotypes of congenital adrenal hyperplasia. The mutant gene p.Y395X produces a truncated form of the polypeptide and abolishes the enzyme activities, leading to a severe phenotype of congenital adrenal hyperplasia.
authors.affiliation: Institute of Biotechnology, Vietnam Academy of Science and Technology, 18-Hoang Quoc Viet, Hanoi, Vietnam. nhhoang@ibt.ac.vn
authors.forename: Huy Hoang
authors.initials: HH
authors.lastname: Nguyen
authors.forename: Thu Hien
authors.initials: TH
authors.lastname: Nguyen
authors.forename: Chi Dung
authors.initials: CD
authors.lastname: Vu
authors.forename: Kim Thoa
authors.initials: KT
authors.lastname: Nguyen
authors.forename: Bac Viet
authors.initials: BV
authors.lastname: Le
authors.forename: Thanh Liem
authors.initials: TL
authors.lastname: Nguyen
authors.forename: Van Hai
authors.initials: VH
authors.lastname: Nong
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*; D013252:Steroid 11-beta-Hydroxylase / Q000235:genetics* / Q000378:metabolism*
chemical_list: D013252:Steroid 11-beta-Hydroxylase