MOLECULAR-GENETIC ANALYSIS OF PATIENTS CARRYING STEROID 21-HYDROXYLASE DEFICIENCY IN THE MEXICAN POPULATION - IDENTIFICATION OF POSSIBLE NEW MUTATIONS AND HIGH PREVALENCE OF APPARENT GERM-LINE MUTATIONS
Ml. Ordonezsanchez et al., MOLECULAR-GENETIC ANALYSIS OF PATIENTS CARRYING STEROID 21-HYDROXYLASE DEFICIENCY IN THE MEXICAN POPULATION - IDENTIFICATION OF POSSIBLE NEW MUTATIONS AND HIGH PREVALENCE OF APPARENT GERM-LINE MUTATIONS, Human genetics, 102(2), 1998, pp. 170-177
Steroid 21-hydroxylase deficiency is the underlying cause in over 90%
of patients with congenital adrenal hyperplasia, an inherited metaboli
c disorder of adrenal steroidogenesis. We have characterized 94 mutant
alleles from 47 unrelated Mexican patients and the corresponding muta
nt alleles in their parents by amplification of the functional CYP21 g
ene by PCR, followed by direct sequence analysis, The study included p
atients diagnosed with the three clinical forms of the disease, Our re
sults revealed: (1) the presence of relatively few mutations or combin
ations of mutations associated with particular phenotypes; (2) the pre
sence of putative new mutations (3) the finding of identical genotypes
in patients displaying discordant phenotypes; (4) the identification
of patients lacking all previous reported mutations; and (5) an appare
nt high frequency of germ-line mutations, The absence of previously re
ported mutations in about 22% of the disease alleles, the finding of p
utative new mutations in some of the patients lacking previously known
mutations, and the apparent high prevalence of germ-line mutations ma
ke evident the differences in the genetic background leading to this d
isorder between the Caucasian and the Mexican populations.