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Cited by 73Sexual Differentiation and DisordersAdrenal Hormones and DisordersMetabolism and Genetic Disorders

Point mutations in Italian patients with classic, non-classic, and cryptic forms of steroid 21-hydroxylase deficiency

Carrera, P., Bordone, Laura, Azzani, Tiziana, Brunelli, Valeria, Garancini, Maria Paola, Chiumello, Giuseppe, Ferrari, Maurizio·1996·Human Genetics
DOI 10.1007/s004390050280
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Abstract

Seventy-three Italian patients affected by steroid 21-hydroxylase deficiency were studied by a PCR-allele-specific oligonucleotide protocol in order to evaluate the presence of eight known point mutations. The majority of chromosomes were found to carry point gene conversions normally present in the pseudogene. Within the classic form, the most common mutations were the splicing mutation A/C-655 to G in intron 2 (34.2%), the nonsense mutation C-1993 to T in exon 8 (10.8%), and the missense mutation T-999 to A in exon 4 (10%). Within the non-classic form, the missense mutation G-1683 to T was the most common (57.7%). Other mutations were either absent, such as the three clustered missense mutations T-1380, T-1383, T-1389 to A in exon 6, or very rare, like the 1761 + T in exon 7 and the C-2108 to T in exon 8. Family genotyping revealed the presence of ten asymptomatic parents carrying mutations in both chromosomes, thus identifying the gene defect in cryptic subjects. Interestingly, the same mutations were found in both symptomatic and asymptomatic forms.

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Crossref · 10.1007/s004390050280

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  • In descending order of compromised 21-hydroxylase activity, 4 general groups of CYP21A2 mutations have been established to predict the phenotype.

    “In descending order of compromised 21-hydroxylase activity, 4 general groups of CYP21A2 mutations have been established to predict the phenotype (Figure 3) (195,196,201,203,208,213,216).”

    From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [196]

  • Deletions, the splice site mutation in intron 2 (c.293-13A/C>G) and p.Ile172Asn (I172N) are the most common mutations in most populations.

    “Deletions, the splice site mutation in intron 2 (c.293-13A/C>G) and p.Ile172Asn (I172N) are the most common mutations in most populations (189,195-213).”

    From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [196]

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Authors
Carrera, P., Bordone, L., Azzani, T., Brunelli, V., Garancini, M. P., Chiumello, G., & Ferrari, M.
Affiliations
  • IRCCS Ospedale San Raffaele (IT)
  • University of Milan (IT)
ORCID
Venue
Human Genetics
Publisher
Springer Science and Business Media LLC
Published
1996-11-07
Volume
98
Issue
6
Pages
662-665
ISSN
  • 0018-7348 (ISSN-L)
  • 0340-6717
  • 1432-1203
DOI
10.1007/s004390050280
OpenAlex
W2006550622
Cited by
73
References
13
Citations by year
2024: 1 · 2022: 2 · 2021: 3 · 2020: 1 · 2019: 1 · 2018: 1 · 2017: 2 · 2016: 4 · 2015: 3 · 2014: 1 · 2012: 3
FWCI
1.51
Type
journal article
Language
en
Open access
closed
Licence
www.springer.com/tdm (tdm)
Locations
  • Human Genetics (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Keywords
21-hydroxylase deficiency, CYP21, point mutations, non-classical congenital adrenal hyperplasia, splicing mutation, nonsense mutation, missense mutations, Italian patients
MeSH terms
Adrenal Hyperplasia, Congenital, Adult, Alleles, Female, Genotype, Humans, Male, Steroid 21-Hydroxylase, Polymerase Chain Reaction, Gene Deletion, Point Mutation

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