Salt wasting phenotype in a compound heterozygous girl with P482S mutation associated with a novel mutation of CYP21 gene (Q481P) [1]

Journal of Endocrinological Investigation

Volumn 28, Issue 11, 2005, Pages 1038-1039

  Di Pasquale, G ^a   Wasniewska, M ^a   Caruso, M ^b   Salzano, G ^a   Coco, M ^b   Lombardo, F ^a   De Luca, F ^a  

^a UNIVERSITY OF MESSINA   (Italy)

^b UNIVERSITY OF CATANIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROSTENEDIONE; CORTICOTROPIN; DNA POLYMERASE; GLUTAMINE; HYDROXYPROGESTERONE; STEROID 21 MONOOXYGENASE;

AMINO ACID SEQUENCE; CASE REPORT; CLINICAL FEATURE; CONGENITAL ADRENAL HYPERPLASIA; FEMALE; GENE AMPLIFICATION; GENE CONVERSION; GENE DELETION; GENE MUTATION; GENOTYPE; HETEROZYGOTE; HUMAN; LETTER; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; SALT LOSING NEPHRITIS;

EID: 33144465558     PISSN: 03914097     EISSN: None     Source Type: Journal    
DOI: 10.1007/bf03345346     Document Type: Letter

References (5)

1. Barbaro M, Lajic S, Baldazzi L, et al. Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab 2004, 89: 2402-7.
2. Balsamo A, Cacciari E, Baldazzi L, et al. CYP21 analisis and phenotype/genotype relationship in the screened population of the Italian Emilia-Romagna region. Clin Endocrinol (Oxf) 2000, 53: 117-25.
3. Day DJ, Speiser PW, Schulze E, et al. Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees. Hum Mol Genet 1996, 5: 2039-48.
4. White PC, New MI, Dupont B. Structure of human steroid 21-hydroxylase genes. Proc Natl Acad Sci USA 1986, 83: 5111-5.
5. White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 2000, 21: 245-91.