title: New genetic abnormalities in non-21α-hydroxylase-deficiency congenital adrenal hyperplasia.
abstract: Congenital adrenal hyperplasia comprises a group of autosomal recessive disorders of sexual differentiation and development that occur due to deficiencies in steroidogenic enzymes within the adrenal gland. Using clinical, biochemical, and sequencing data, we describe non-21α-hydroxylase deficiencies in 6 individuals from 4 families originating from endogamic regions in Mexico. Three individuals had 11β- hydroxylase deficiencies caused by 2 hitherto unreported mutations (P442L substitution and an 11-bp insertion in exon 5 of CYP11B1), while 3 individuals had 17α-hydroxylase/17,20-lyase deficiencies. Sequence-tagged site analysis of 8 individuals from 1 endogamic region suggested that the mutations likely occurred as a result of a founder effect. Although non-21α-hydroxylase enzymatic defects are rare in most populations, characterization of new mutations is important in order to understand the demographic, clinical, biochemical, and molecular variations that exist, and for both active and preventative management in individuals and their communities.
authors: Department of Human Genetics, Hospital General de Mexico, Mexico City, Mexico.
authors: M
authors: M
authors: Martin
authors: N
authors: N
authors: Najera
authors: N
authors: N
authors: Garibay
authors: L M
authors: LM
authors: Malanco
authors: T
authors: T
authors: Martinez
authors: J
authors: J
authors: Rivera
authors: M
authors: M
authors: Rivera
authors: G
authors: G
authors: Queipo
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D018703:Founder Effect; D006720:Homozygote; D006801:Humans; D008297:Male; D008800:Mexico; D016254:Mutagenesis, Insertional; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense; D010375:Pedigree; D013252:Steroid 11-beta-Hydroxylase / Q000235:genetics; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics; D055815:Young Adult
chemical_list: D013254:Steroid 17-alpha-Hydroxylase; D013252:Steroid 11-beta-Hydroxylase