New frameshift mutation in the 5α-reductase type 2 gene in a Brazilian patient with 5α-reductase deficiency

American Journal of Medical Genetics

Volumn 87, Issue 3, 1999, Pages 221-225

  Ferraz, Lúcio Fábio Caldas ^a   Baptista, Maria Teresa Mathias ^a   Maciel Guerra, Andréa Trevas ^a   Júnior, Gil Guerra ^a   Hackel, Christine ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

Author keywords

1 base pair deletion; Male pseudohermaphroditism; Steroid 5 reductase deficiency

Indexed keywords

ANDROSTANOLONE; STEROID 5ALPHA REDUCTASE; TESTOSTERONE;

ADULT; ALLELISM; ARTICLE; BASE PAIRING; BRAZIL; CASE REPORT; FRAMESHIFT MUTATION; GENE DELETION; GENETIC ANALYSIS; HUMAN; MALE; MALE GENITAL SYSTEM; MALE PSEUDOHERMAPHRODITISM; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PRIORITY JOURNAL;

EID: 0033607635     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19991126)87:3<221::aid-ajmg5>3.0.co;2-%23     Document Type: Article

References (15)

1. Andersson S, Berman DM, Jenkins EP, Russel DW. 1991. Deletion of steroid 5 α-reductase 2 gene in male pseudohermaphroditism. Nature 354:159-161.
2. Anwar R, Gilbey SG, New JP, Markham AF. 1997. Male pseudohermaphroditism resulting from a novel mutation in the human steroid 5α-reductase type 2 gene. J Clin Pathol Mol Pathol 50:51-52.
3. Boudon C, Lobaccaro JM, Lumbroso S, Ogur G, Ocal G, Belon C, Sultan C. 1995b. A new deletion of the 5α-reductase type 2 gene in a Turkish family with 5α-reductase deficiency. Clin Endocrinol 43:183-188.
4. Boudon C, Lumbroso S, Lobaccaro JM, Szarras-Czapnik M, Romer TE, Garandeau P, Montoya P, Sultan C. 1995a. Molecular study of the 5a-reductase type 2 gene in three European families with 5α-reductase deficiency. J Clin Endocrinol Metab 80:2149-2153.
5. Can S, Zhu Y-S, Cai L-Q, Ling Q, Katz MD, Akgun S, Shackleton CHL, Imperato-McGinley J. 1998. The identification of 5 α-reductase-2 and 17β-hydroxysteroid dehydrogenase-3 gene defects in male pseudohermaphrodites from a Turkish kindred. J Clin Endocrinol Metab 83:560-569.
6. Canto P, Vilchis F, Chávez B, Mutchinick O, Imperato-McGinley J, Pérez-Palacios G, Ulloa-Aguirre A, Méndez JP. 1997. Mutations of the 5α-reductase type 2 gene in eight Mexican patients from six different pedigrees with 5α-reductase-2 deficiency. Clin Endocrinol 46:155-160.
7. Forti G, Falchetti A, Santoro S, Davis DL, Wilson JD, Russel DW. 1996. Steroid 5α-reductase 2 deficiency: virilization in early infancy may be due to partial function of mutant enzyme. Clin Endocrinol 44:477-482.
8. Katz MD, Cai L-Q, Zhu Y-S, Herrera C, DeFillo-Ricart M, Shackleton HL, Imperato-McGinley J. 1995. The biochemical and phenotypic characterization of females homozygous for 5 α-reductase deficiency. J Clin Endocrinol Metab 80:3160-3167.
9. Labrie F, Sugimoto Y, Luu-The V, Simard J, Lachance Y, Bachvarov D, Leblanc G, Durocher F, Paquet N. 1992. Structure of human type II 5 α-reductase gene. Endocrinology 131:1571-1573.
10. Russel DW, Wilson JD. 1994. Steroid 5 α-reductase: two genes/two enzymes. Annu Rev Biochem 63:25-61.
11. Sinnecker GHG, Hiort O, Dibbelt L, Albers N, Dorr HG, Hauss H, Heinrich U, Hemminghaus M, Hoepffner W, Holder M, Schnabel D, Kruse K. 1996. Phenotypic classification of male pseudohermaphroditism due to steroid 5α-reductase 2 deficiency. Am J Med Genet 63:223-230.
12. Thigpen AE, Davis DL, Miltovich A, Mendonça BB, Imperato-McGinley J, Griffin JE, Francke U, Wilson JD, Russel DW. 1992. Molecular genetics of 5 α-reductase deficiency. J Clin Invest 90:799-809.
13. Thigpen AE, Silver RI, Guileyardo JM, Casey ML, McConnell JD, Russel DW. 1993. Tissue distribution and ontogeny of steroid 5α-reductase isozyme expression. J Clin Invest 92:903-910.
14. Wigley WC, Prihoda JS, Mowszowicz I, Mendonça BB, New MI, Wilson JD, Russel DW. 1994. Natural mutagenesis study of the human steroid 5 α-reductase 2 isozyme. Biochemistry 33:1265-1270.
15. Wilson JD, Griffin JE, Russel DW. 1993. Steroid 5α-reductase 2 deficiency. Endocr Rev 14:577-593.