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Analysis of clinical phenotypes and CYP21A2 gene variants in 18 patients with 21-hydroxylase deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 120-123, 2019.
Artículo en Chino | WPRIM | ID: wpr-775799
ABSTRACT
OBJECTIVE@#To explore the genotype-phenotype correlation among 18 patients with 21-hydroxylase deficiency (21-OHD).@*METHODS@#PCR-Sanger sequencing was used to analyze the 10 exons and flanking regions of the CYP21A2 gene among the 18 patients and 20 healthy controls.@*RESULTS@#Seventeen patients had variants of the CYP21A2 gene. Eight patients (44.4%, 8/18) carried homozygous variants including p.Ile 173Asn (62.5%, 5/8), p.Pro31Leu (25.0%, 2/8), and IVS2-13A/C>G (12.5%, 1/8), respectively. Six patients (33.3%, 6/18) carried compound heterozygous variant, among which IVS2-13 A>G+p.Ile 173Asn were most common (50.0%). 94.4% (34/36) of the variant were pathogenic, with the most common variants being p.Ile173Asn (41.7%), IVS2-13A/C>G (19.4%), and p.Ile173Asn (7.5%). No variant was identified among the 20 healthy controls.@*CONCLUSION@#The majority of 21-OHD patients carried CYP21A2 gene variants in homozygous or compound heterozygous forms, among which the p.Ile173Asn was the most common one. There is a strong correlation between the genotypes and clinical phenotypes.
Asunto(s)
Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Fenotipo / Esteroide 21-Hidroxilasa / Hiperplasia Suprarrenal Congénita / Genética / Genotipo / Mutación Límite: Humanos Idioma: Chino Revista: Chinese Journal of Medical Genetics Año: 2019 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Fenotipo / Esteroide 21-Hidroxilasa / Hiperplasia Suprarrenal Congénita / Genética / Genotipo / Mutación Límite: Humanos Idioma: Chino Revista: Chinese Journal of Medical Genetics Año: 2019 Tipo del documento: Artículo