CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia–Romagna region

Balsamo, Antonio; Cacciari, E; Baldazzi, Lilia; Tartaglia, Louis A.; Cassio, Alessandra; Mantovani, Vilma; Piazzi, S.; Cicognani, Alessandro; Pirazzoli, Piero; Mainetti, B.; Zappulla, F

doi:10.1046/j.1365-2265.2000.01048.x

Cited by 54 publications

(34 citation statements)

References 32 publications

(40 reference statements)

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“…The mutations in patients from the Emilia-Romagna province in northern Italy reported herein had a large deletion on only 3% of their 106 alleles. A previous report from Emilia-Romagna by Balsamo et al found 13% of 114 alleles with the large deletion mutation [39]. This is surprising as these patients originated from the same region in Italy.…”

Section: Discussionmentioning

confidence: 55%

Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

Wilson

Nimkarn

Dumić

et al. 2007

Molecular Genetics and Metabolism

114

111

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Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) occurs worldwide. The most common mutations in the CYP21A2 gene in 716 unrelated patients were analyzed and the mutations were grouped by ethnicity, as defined through self-declaration corroborated by review of pedigrees extending to two or three generations. Prevalent allelic mutations and genotypes were found to vary significantly among ethnic groups, and the predominance of the prevalent mutations and genotypes in several of these populations was significant. There are ethnicspecific mutations in the CYP21A2 gene. A large deletion is prevalent in the Anglo-Saxons; a V281L (1685 G to T) mutation is prevalent in Ashkenazi Jews; an R356W (2109 G to A) mutation is prevalent in the Croatians; an IVS2 AS -13 (A/C to G) mutation is prevalent in the Iranians and Yupik-speaking Eskimos of Western Alaska; and a Q318X (1994 C to T) mutation is prevalent in East Indians. Genotype/phenotype non-correlation was seen when at least one IVS2 AS -13 (A/C to G) mutation in the CYP21A2 gene was present.

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Section: Discussionmentioning

confidence: 55%

Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

Wilson

Nimkarn

Dumić

et al. 2007

Molecular Genetics and Metabolism

114

111

View full text Add to dashboard Cite

show abstract

“…The overall frequency of p.V281L is however one of the highest found for this mutation both in Greek [18] and other populations in Europe and the Mediterranean area [19,20,21,22,25,35,36,48,49,50,51]. This mutation is quite common in our population.…”

Section: Discussionmentioning

confidence: 90%

Molecular Defects of the <i>CYP21A2</i> Gene in Greek-Cypriot Patients with Congenital Adrenal Hyperplasia

et al. 2010

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Background/Aim: To determine the mutations in the CYP21A2 gene in Greek-Cypriots with congenital adrenal hyperplasia (CAH) and attempt a genotype-phenotype correlation. Subjects and Methods: Molecular analysis was performed by multiplex ligation-dependent probe amplification and direct sequencing of PCR products of the CYP21A2 gene in 32 CAH patients. Results: The most frequent genetic defect in the classic salt-wasting and simple virilizing forms was the IVS2-13A/C>G (55%) mutation, followed by Large lesion (20%) and in the non-classical form, the p.V281L (79.5%). Genotypes were categorized in 4 mutation groups (null, A, B and C). All 3 patients in the null group manifested the salt-wasting form and all 6 patients in mutation group A presented with the classical form. One patient in group B had the simple virilizing form and 22 patients in group C exhibited the non-classical form. Conclusion: The spectrum of mutations of the CYP21A2 gene in our population is comparable to the most common reported in similar ethnic groups. The knowledge of the ethnic specificity of the CYP21A2 mutations represents a valuable diagnostic tool for all forms of CAH.

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“…This mutation is also the most common worldwide, except in some groups of patients of South Europe (Portugal, Italy and Spain), where it is less common and where mutation V281L has been identified as the most prevalent. Mutation V281L, which confers more than 20% enzymatic activity, is the most common variant associated to the nonclassical form of 21-OH deficiency in South European countries, reaching 34% in Spain (Ezquieta et al, 2002), 28% in Portugal (Friaes et al, 2006) and 24% in Italy (Balsamo et al, 2000). In North Europe, the most frequent mutation in NC alleles is P30L (Table 2).…”

Section: Discussionmentioning

confidence: 99%

CYP21 gene mutations in Brazilian patients with 21-hydroxylase deficiency from the Amazon region

et al. 2008

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Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (P450c21, CYP21) accounts for about 95% of all CAH cases. The incidence of CYP21 gene mutations has been extensively studied in the last years, but in Brazil it has been investigated only in Southeast Brazilian patients. This study is the first report on the distribution of CYP21 mutations in patients from the Amazon region. Direct sequencing of the CYP21 gene identified at least one mutation in 96% of the studied chromosomes. The most common mutations found were IVS2-13A/C > G (36%), Q318X (12%), V281L (12%), 1760_1761insT (9%), Cluster E6 (7%), and P30L (7%). The worldwide most common mutations were identified among patients from the Amazon region at frequencies that may be expected for a population resulting from the admixture of Europeans (predominantly Portuguese), African Blacks and Amerindians, in proportions that differ from those estimated for South Brazilian populations. Interethnic mixture may explain the differences in the frequencies of some mutations between Brazilian patients from the Amazon and from the Southeast of the country. However, the differences found may also be due to variation in the number of patients with the different clinical forms of 21-hydroxylase deficiency in the studies carried out so far.

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CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia–Romagna region

Cited by 54 publications

References 32 publications

Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

Molecular Defects of the <i>CYP21A2</i> Gene in Greek-Cypriot Patients with Congenital Adrenal Hyperplasia

CYP21 gene mutations in Brazilian patients with 21-hydroxylase deficiency from the Amazon region

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