. "Substitution in the promoter region of th CYP21 affects a phenotype of the disease in patients with 21-hydroxylase deficiency"@en . . "CZ - \u010Cesk\u00E1 republika" . . . "4"^^ . . . . . . . . "4"^^ . "Kazuistiky v diabetologii" . "Substituce v promotoru CYP21 genu ovliv\u0148uj\u00EDc\u00ED fenotyp nemoci u pacient\u016F s deficitem 21-hydroxyl\u00E1zy"@cs . . "7" . "6"^^ . . . "In family report there is presented the case of the six-year-old boy, who was being observed for the manifestation of praecox pubarche and for excessive growth of the figure. His clinical symptomts corresponded to the simple virilizing form of congenital adrenal hyperplasia. To confirm the given diagnose the patient was examined by the molecular genetic analysis of deficit 21-hydroxylalse. After the basic DNA analysis the genotype of the boy was determined as the compound haterozygote carrying the chimeric CYP21P/CYP21 gene on the paternal allele and an unknown mutation on the maternal allele. Using the MLPA method and sequencing method of the CYP21 gene we defined atypical mutant allele with a large gene conversion on maternal allele (5-untranslated region including the promotor and sequence of the 1. exon in the CYP21 gene)."@en . "S\u0165ahlov\u00E1 Hrabincov\u00E1, Eva" . "Fajkusov\u00E1, Lenka" . "RIV/00216224:14310/09:00040089" . "Substitution in the promoter region of th CYP21 affects a phenotype of the disease in patients with 21-hydroxylase deficiency"@en . . "congenital adrenal hyperplasia; 21-hydroxylase deficiency; CYP21 gene; simple virilizing form"@en . "P(LC06023), P(NR9308)" . "14310" . "Votava, Fekix" . . "V kazuistice je prezentov\u00E1n p\u0159\u00EDpad \u0161estilet\u00E9ho chlapce,u kter\u00E9ho byla pozorov\u00E1na manifestace p\u0159ed\u010Dasn\u00E9 puberty a nadm\u011Brn\u00FD vzr\u016Fst postavy. Jeho klinick\u00E9 p\u0159\u00EDznaky odpov\u00EDdaly prost\u00E9 virilizuj\u00EDc\u00ED form\u011B kongenit\u00E1ln\u00ED adren\u00E1ln\u00ED hyperpl\u00E1zie. Pro potvrzen\u00ED stanoven\u00E9 diagn\u00F3zy byl proband posl\u00E1n na molekul\u00E1rn\u011B genetick\u00E9 vy\u0161et\u0159en\u00ED deficitu 21-hydroxyl\u00E1zy. Proveden\u00EDm z\u00E1kladn\u00ED DNA anal\u00FDzy jsme probanda ur\u010Dili jako slo\u017Een\u00E9ho heterozygota p\u0159en\u00E1\u0161ej\u00EDc\u00EDho chim\u00E9rn\u00ED CYP21P/CYP21 gen na patern\u00E1ln\u00ED alele a nezn\u00E1mou mutaci na matern\u00E1ln\u00ED alele. Pomoc\u00ED metody MLPA a n\u00E1sledn\u00E9 sekvena\u010Dn\u00ED anal\u00FDzy CYP21 genu jsme na matern\u00E1ln\u00ED alele charakterizovali atypickou mutantn\u00ED alelu s rozs\u00E1hlou genovou konverz\u00ED (5-nep\u0159ekl\u00E1dan\u00E1 oblast v\u010Detn\u011B promotoru a sekvence 1. exonu v CYP21 genu). Bylo pops\u00E1no, \u017Ee tento typ alely v\u00FDznamn\u011B sni\u017Euje aktivitu enzymu 21-hydroxyl\u00E1zy (na 4-10%), co\u017E m\u00E1 za n\u00E1sledek projev t\u011B\u017E\u0161\u00ED formy onemocn\u011Bn\u00ED CAH, nej\u010Dast\u011Bji prost\u00E9 virilizuj\u00EDc\u00ED."@cs . "Koz\u00E1k, Libor" . "Je\u0159\u00E1bkov\u00E1, Barbora" . "[3E6F644BE762]" . "1214-231X" . "V kazuistice je prezentov\u00E1n p\u0159\u00EDpad \u0161estilet\u00E9ho chlapce,u kter\u00E9ho byla pozorov\u00E1na manifestace p\u0159ed\u010Dasn\u00E9 puberty a nadm\u011Brn\u00FD vzr\u016Fst postavy. Jeho klinick\u00E9 p\u0159\u00EDznaky odpov\u00EDdaly prost\u00E9 virilizuj\u00EDc\u00ED form\u011B kongenit\u00E1ln\u00ED adren\u00E1ln\u00ED hyperpl\u00E1zie. Pro potvrzen\u00ED stanoven\u00E9 diagn\u00F3zy byl proband posl\u00E1n na molekul\u00E1rn\u011B genetick\u00E9 vy\u0161et\u0159en\u00ED deficitu 21-hydroxyl\u00E1zy. Proveden\u00EDm z\u00E1kladn\u00ED DNA anal\u00FDzy jsme probanda ur\u010Dili jako slo\u017Een\u00E9ho heterozygota p\u0159en\u00E1\u0161ej\u00EDc\u00EDho chim\u00E9rn\u00ED CYP21P/CYP21 gen na patern\u00E1ln\u00ED alele a nezn\u00E1mou mutaci na matern\u00E1ln\u00ED alele. Pomoc\u00ED metody MLPA a n\u00E1sledn\u00E9 sekvena\u010Dn\u00ED anal\u00FDzy CYP21 genu jsme na matern\u00E1ln\u00ED alele charakterizovali atypickou mutantn\u00ED alelu s rozs\u00E1hlou genovou konverz\u00ED (5-nep\u0159ekl\u00E1dan\u00E1 oblast v\u010Detn\u011B promotoru a sekvence 1. exonu v CYP21 genu). Bylo pops\u00E1no, \u017Ee tento typ alely v\u00FDznamn\u011B sni\u017Euje aktivitu enzymu 21-hydroxyl\u00E1zy (na 4-10%), co\u017E m\u00E1 za n\u00E1sledek projev t\u011B\u017E\u0161\u00ED formy onemocn\u011Bn\u00ED CAH, nej\u010Dast\u011Bji prost\u00E9 virilizuj\u00EDc\u00ED." . . "Substituce v promotoru CYP21 genu ovliv\u0148uj\u00EDc\u00ED fenotyp nemoci u pacient\u016F s deficitem 21-hydroxyl\u00E1zy" . "RIV/00216224:14310/09:00040089!RIV11-MZ0-14310___" . "Substituce v promotoru CYP21 genu ovliv\u0148uj\u00EDc\u00ED fenotyp nemoci u pacient\u016F s deficitem 21-hydroxyl\u00E1zy"@cs . . "Substituce v promotoru CYP21 genu ovliv\u0148uj\u00EDc\u00ED fenotyp nemoci u pacient\u016F s deficitem 21-hydroxyl\u00E1zy" . "344638" . . "Vrzalov\u00E1, Zuzana" . . "1" .