Low Frequency of CYP21B Deletions in Brazilian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase DeficiencyBachega T.A.S.S.a · Billerbeck A.E.C.a · Madureira G.a · Arnhold I.J.P.a · Medeiros M.A.a · Marcondes J.A.M.a · Longui C.A.b · Nicolau W.a · Bloise W.a · Mendonca B.B.a
aDevelopmental Endocrinology Unit, Division of Endocrinology, Hospital das Clinicas of the University of São Paulo School of Medicine, and bPediatric Endocrinology Unit-Department of Santa Casa, São Paulo, Brazil
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The frequency of large mutations was determined in 131 Brazilian patients with different clinical forms of 21-hydroxylase deficiency, belonging to 116 families. DNA samples were examined by Southern blotting hybridization with genomic CYP21 and C4cDNA probes after TaqI and BglII restriction. Large gene conversions were found in 6.6% and CYP21B deletions in 4.4% of the alleles. The breakpoint in these hybrid genes occurred after exon 3 in 92% of the alleles. All rearrangements involving CYP21B gene occurred in the heterozygous form, except in a patient with simple virilizing form who presented homozygous CYP21B deletion. Our data showed that in these Brazilian patients, CYP21B deletions were less frequent than in most of the large series previously reported.
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