title: Molecular analysis of CYP-21 mutations for congenital adrenal hyperplasia in Singapore.
abstract: BACKGROUND
  Congenital adrenal hyperplasia arising from 21-hydroxylase deficiency is associated with mutations in the CYP21 gene on chromosome 6p. This is the first report on the mutational spectrum of the CYP21 gene in Singapore.
  
  
  METHODS
  To catalogue the mutations, ten exons of the CYP21 gene from 28 Singaporean patients were analyzed by PCR amplification and direct sequencing.
  
  
  RESULTS
  Common mutations in descending order were the intron 2 splice site mutation (32.7% of the alleles), the I172N mutation (23.1% of the alleles), and the R356W mutation (19.2% of the alleles). Two potentially novel mutations were discovered: (1) duplication of 111 bp from codon 21 to codon 57 (exon 1) and (2) missense mutation (L261P, exon 7). There was generally a good genotype-phenotype correlation, allowing accurate prediction of the disease severity.
authors.affiliation: Children's Medical Centre, National University Hospital, Lower Kent Ridge Road, Singapore 119074. paelky@nus.edu.sg
authors.forename: K Y
authors.initials: KY
authors.lastname: Loke
authors.forename: Y S
authors.initials: YS
authors.lastname: Lee
authors.forename: W W
authors.initials: WW
authors.lastname: Lee
authors.forename: L K
authors.initials: LK
authors.lastname: Poh
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology* / Q000453:epidemiology / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D012846:Singapore / Q000453:epidemiology; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
chemical_list: D013255:Steroid 21-Hydroxylase