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(Referência obtida automaticamente do Web of Science, por meio da informação sobre o financiamento pela FAPESP e o número do processo correspondente, incluída na publicação pelos autores.)

H28+C insertion in the CYP21 gene: A novel frameshift mutation in a Brazilian patient with the classical form of 21-hydroxylase deficiency

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Autor(es):
Lau, IF ; Soardi, FC ; Lemos-Marini, SHV ; Guerra, G ; Baptista, MTM ; De Mello, MP
Número total de Autores: 6
Tipo de documento: Artigo Científico
Fonte: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM; v. 86, n. 12, p. 5877-5880, DEC 2001.
Citações Web of Science: 13
Resumo

In the classical form of 21-hydroxylase deficiency, CYP21-affected genes either carry mutations present in the CYP21P pseudogene (microconversions) or bear a chimeric gene that replaces the active gene as a result of large conversion or deletion mutational events. Previous genotyping of 41 Brazilian patients revealed 64% microconversion, whereas deletions and large gene conversions accounted for up to 21% of the molecular defect. The present paper describes a new mutation disclosed by sequencing an entire gene in which no pseudogene-originated mutation had been found. The patient with the classical form of 21-hydroxylase deficiency is the daughter of a consanguineous marriage, and she is homozygous for a novel frameshift H28+C within exon 1. The mutation causes a stop codon at amino acid 78. Both parents are heterozygous for the mutation as confirmed by allele-specific oligonucleotide PCR. The H28+C is not present in the published CYP21P sequences and is likely to result in an enzyme with no activity. (AU)

Processo FAPESP: 97/07622-2 - Caracterização molecular de alelos raros relacionados com a deficiência da 21-hidroxilase
Beneficiário:Maricilda Palandi de Mello
Modalidade de apoio: Auxílio à Pesquisa - Regular