Only two amino acid substitutions of I236N and V237E in exon 6 are converted to the CYP21 gene in a Chinese patient with congenital adrenal hyperplasia [3]

Clinical Endocrinology

Volumn 64, Issue 2, 2006, Pages 227-229

  Lee, Hsien Hsiung ^a,b   Chao, Mei Chyn ^c   Lee, Yann Jinn ^a,d  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b CHINA MEDICAL UNIVERSITY   (Taiwan)

^c KAOHSIUNG MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^d TAIPEI MEDICAL UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

STEROID 21 MONOOXYGENASE;

ALLELE; AMINO ACID SUBSTITUTION; CASE REPORT; CONGENITAL ADRENAL HYPERPLASIA; EXON; GENE AMPLIFICATION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; HORMONE ACTION; HORMONE DETERMINATION; HUMAN; LETTER; MEIOSIS; PRIORITY JOURNAL;

ADRENAL HYPERPLASIA, CONGENITAL; AMINO ACID SUBSTITUTION; EXONS; HUMANS; MUTATION; STEROID 21-HYDROXYLASE;

EID: 33644945847     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2006.02435.x     Document Type: Letter

References (7)

1. Higashi Y. Tanae A. Inoue H. Hiromasa T. Fujii-Kuriyama Y. 1988 Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450 (C21)] deficiency in humans: possible gene conversion products Proceedings of the National Academy of Sciences of the United States of America 85 7486 7490
2. White P.C. Speiser P.W. 2000 Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Endocrine Reviews 21 245 291
3. Speiser P.W. Dupont J. Zhu D. Serrat J. Buegeleisen M. Tusie-Luna M.T. Lesser M. New M.I. White P.C. 1992 Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency Journal of Clinical Investigation 90 584 595
4. Robins T. Barbaro M. Lajic S. Wedell A. 2005 Not all amino acid substitutions of the common cluster E6 mutation in CYP21 cause congenital adrenal hyperplasia Journal of Clinical Endocrinology and Metabolism 90 2148 2153
5. Lee H.H. Chang S.F. Tsai F.J. Tsai L.P. Lin C.Y. 2003 Mutation of IVS2 -12A/C → G in combination with 707-714delGAGACTAC in the CYP21 gene is caused by deletion of the C4-CYP21 repeat module with steroid 21-hydroxylase deficiency Journal of Clinical Endocrinology and Metabolism 88 2726 2729
6. Lee H.H. Chao H.T. Ng H.T. Choo K.B. 1996 Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia Journal of Medical Genetics 33 371 375
7. Martin M. Mann D. Carrington M. 1995 Recombination rates across the HLA complex: use of microsatellites as a rapid screen for recombinant chromosomes Human Molecular Genetics 4 423 428