title: Non-expression of a common mutation in the 21-hydroxylase gene: implications for prenatal diagnosis and carrier testing.
abstract: Mutation analysis in the family of a child with 21-hydroxylase deficiency showed that the father and affected child were homozygous for a mutation, A/C655G, believed to activate a cryptic splice site in intron 2 of the 21-hydroxylase gene. The father, who was clinically asymptomatic, showed no biochemical evidence of disease. These results create problems for the management of future pregnancies in such families and for the interpretation of the risk associated with carrier status for this mutation.
authors.affiliation: Department of Chemical Pathology, UCL Hospitals, London, UK.
authors.forename: G
authors.initials: G
authors.lastname: Rumsby
authors.forename: A F
authors.initials: AF
authors.lastname: Massoud
authors.forename: C
authors.initials: C
authors.lastname: Avey
authors.forename: C G
authors.initials: CG
authors.lastname: Brook
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D004252:DNA Mutational Analysis; D012734:Disorders of Sex Development / Q000201:enzymology / Q000235:genetics; D005260:Female; D005784:Gene Amplification; D006580:Genetic Carrier Screening; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011296:Prenatal Diagnosis; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
chemical_list: D013255:Steroid 21-Hydroxylase