INTRON 2 SPLICE MUTATION AT CYP21 GENE IN
PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA
IN THE REPUBLIC OF MACEDONIA Anastasovska V, Kocova M *Corresponding Author: Mirjana Kocova, Department of Endocrinology and Genetics, University
Children’s Clinic, Vodnjanska 17, 1000 Skopje, Republic of Macedonia; Tel.: +389-70-242-694;
Fax: +389-23-129-027; E-mail: mirjanakocova@yahoo.com page: 27 download article in pdf format
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Abstract
Congenital adrenal hyperplasia (CAH) is
an autosomal recessive disorder. In 90-95% of
cases it results from mutations in the gene for
21-hydroxylase (CYP21, also termed CYP21A2
and P450c21). The IVS-II-656 (C/A>G) mutation
leaves ~2.0% enzyme activity, and comprises 25%
of the classic CYP21 deficiency alleles and 51% of
alleles in the salt-wasting form.
We performed direct molecular diagnosis of
the IVS-II mutation in 41 Macedonian patients
with different clinical forms of CAH and 55 of
their healthy parents and siblings from 37 unrelated
families, using the differential polymerase chain
reaction/amplification created restriction site method
(PCR/ACRS). The IVS-II mutation was detected
in 41.5% patients (29.3% were homozygotes and
12.2% were heterozygotes). All homozygotes had
a severe classical CAH phenotype (of which 91.7%
were salt-wasting and 8.3% were simple virilizing).
Three of the heterozygotes had a salt-wasting (SW)
phenotype and were compound heterozygotes.
The IVS-II mutation was also found in 30.9% of
the family members (18.2% were homozygous
and 12.7% were heterozygous) and none had any
clinical manifestation. The frequency of the IVS-II
mutation (41.5%) in these subjects was similar to
that reported elsewhere.
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