Abstract
More than 90\% of congenital adrenal hyperplasia (CAH) cases are
associated with mutations in the 21-hydroxylase gene (CYP21A2) in the
HLA class III area on the short arm of chromosome 6p21.3. The major part
of disease-causing mutations in CYP21A2 alleles are CYP21A1P-derived
sequence transferred to the active gene by macroconversion or
micro-conversion events. Only around 5\% of all disease-causing CYP21A2
alleles harbor rare mutations that do not originate from the pseudogene.
A complete list of all reported CYP21A2 mutations can be found in the
CYP21A2 database created by the Human Cytochrome P450 (CYP) Allele
Nomenclature Committee (http://www.imm.Ki.se/CYPalleles/cyp21.htm). In
this report, we describe clinical and genetic findings regarding an
Italian woman suffering from a classic salt-wasting form of CAH due to a
severe 21-hydroxylase deficiency. A complex genetic family study was
performed including a prenatal diagnosis. The patient was found to be
heterozygous for p. I172N (exon 4), p.E238del (exon 6), p.M239K (exon
6), and p.F306insT (exon 7) mutations and homozygous for p.I236N (exon
6) and p.V237E (exon 6) mutations. The deletion of glutamic acid 238 is
a new mutation not reported before in the literature. CYP21A2 genotyping
has become a valuable complement to biochemical CAH investigation. We
highlight the contribution of molecular genetic advancements to the
clinical management of patients with 21-hydroxylase deficiency.
Lingua originale | English |
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pagine (da-a) | 48-51 |
Numero di pagine | 4 |
Rivista | Diagnostic Molecular Pathology |
Volume | 22 |
DOI | |
Stato di pubblicazione | Pubblicato - 2013 |
Keywords
- 21-hydroxylase deficiency
- CYP21A2 mutations
- p.E238del
- prenatal molecular diagnosis