A novel point mutation of the androgen receptor (F804L) in an Egyptian newborn with complete androgen insensitivity associated with congenital glaucoma and hypertrophic pyloric stenosis

Clinical Genetics

Volumn 63, Issue 1, 2003, Pages 59-63

  Gad, Y Z ^a   Mazen, I ^a   Lumbroso, S ^b   Temtamy, S A ^a   Sultan, Charles ^b,c  

^a NATIONAL RESEARCH CENTRE   (Egypt)

^b LAPEYRONIE HOSPITAL   (France)

^c HÔPITAL ARNAUD DE VILLENEUVE   (France)

Author keywords

Androgen receptor; Complete androgen insensitivity; Congenital glaucoma; Hypertrophic pyloric stenosis; Mutation

Indexed keywords

ANDROGEN RECEPTOR; ANDROSTANOLONE; GONADOTROPIN; STEROID 5ALPHA REDUCTASE;

ANDROGEN INSENSITIVITY SYNDROME; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONGENITAL GLAUCOMA; EGYPT; EXON; FAMILY HISTORY; FATHER; FEMALE; FEMALE GENITAL SYSTEM; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; HYPERTROPHIC PYLORUS STENOSIS; KARYOTYPE 46,XY; MALE PSEUDOHERMAPHRODITISM; MUELLERIAN DUCT; NEWBORN; POINT MUTATION; PRIORITY JOURNAL; ULTRASOUND; GENETICS; GLAUCOMA; INFANT; MALE; PYLORUS STENOSIS;

ANDROGEN-INSENSITIVITY SYNDROME; EGYPT; FEMALE; GLAUCOMA; HUMANS; INFANT; INFANT, NEWBORN; MALE; POINT MUTATION; PYLORIC STENOSIS; RECEPTORS, ANDROGEN;

EID: 0038417119     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2003.630109.x     Document Type: Article

References (32)

1. Brown CJ, Goss SJ, Lubahn DB et al. Androgen receptor locus on the human X chromosome. regional localization to Xq11-12 and description of a DNA polymorphism. Am J Human Genet 1989: 44: 264-269.
2. Lubahn DB, Brown TR, Simental JA et al. Sequence of the intron-exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity. Proc Natl Acad Sci USA 1989: 86: 9534-9538.
3. Jenster G, van der Korput HAGM, van Vroonhoven C, van der Kwast TH, Brinkmann AO. Domains of the human androgen receptor involved in steroid binding, transcriptional activation, and subcellular localization. Mol Endocrinol 1991: 5: 1396-1404.
4. Simental JA, Sar M, Wilson EM. Domain functions of the androgen receptor. J Steroid Biochem Mol Biol 1992: 43: 37-41.
5. Gottlieb B, Beitel LK, Lumbroso R, Pinsky L, Trifiro M. Update of the androgen receptor gene mutations database. Hum Mutat 1999: 14: 103-114.
6. Quigley CA, De Bellis A, Marschke KB, el-Awady MK, Wilson EM, French FS. Androgen receptor defects: historical, clinical, and molecular perspectives [published erratum appears in Endocr Rev 1995 August; 16 (4): 546]. Endocr Rev 1995: 16: 271-321.
7. Migeon CJ, Berkovitz GD, Brown TR. Sexual differentiation and ambiguity In: Kappy MS, Blizzard RM, Migeon CJ, eds. The Diagnosis and Treatment of Endocrine Disorders in Childhood and Adolescence. Springfield: Charles C. Thomas, 1994: 573-681.
8. Boudon C, Lumbroso S, Lobaccaro JM et al. Molecular study of the 5 alpha-reductase type 2 gene in three European families with 5 alpha-reductase deficiency. J Clin Endocrinol Metab 1995: 80: 2149-2153.
9. Lumbroso S, Lobaccaro JM, Georget V et al. A novel substitution (Leu707Arg) in exon 4 of the androgen receptor gene causes complete androgen resistance. J Clin Endocrinol Metab 1996: 81: 1984-1988.
10. Temtamy S, Meguid N, Mazen I, Ismail S, Kassem N, Bassiouni R. A genetic epidemiological study of malformations at birth in Egypt. East Med Health J 1998: 4: 252-259.
11. Mazen I, Gad Y, Khalil A. Intersex disorders among Egyptian patients. J Arab Child 1996: 7: 607-625.
12. Andersson S, Berman DM, Jenkins EP, Russell DW. Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism. Nature 1991: 354: 159-161.
13. Wilson JD, Griffin JE, Russell DW. Steroid 5α-reductase 2 deficiency. Endocr Rev 1993: 14: 577-593.
14. Schueler MG, Higgins AW, Nagaraja R et al. Large-insert clone/STS contigs in Xq11-q12, spanning deletions in patients with androgen insensitivity and mental retardation. Genomics 2000: 66: 104-109.
15. Viner RM, Shimura N, Brown BD, Green AJ, Hughes IA. Down's syndrome in association with features of the androgen insensitivity syndrome. J Med Genet 1996: 33: 574-577.
16. Matias PM, Donner P, Coelho R et al. Structural evidence for ligand specificity in the binding domain of the human androgen receptor. Implications for pathogenic gene mutations. J Biol Chem 2000: 275 (34): 26164-26171.
17. Poujol N, Wurtz JM, Tahiri B et al. Specific recognition of androgens by their nuclear receptor. A structure-function study. J Biol Chem 2000: 275: 24022-24031.
18. Sack JS, Kish KF, Wang C et al. Crystallographic structures of the ligand-binding domains of the androgen receptor and its T877A mutant complexed with the natural agonist dihydrotestosterone. Proc Natl Acad Sci USA 2001: 98: 4904-4909.
19. Ong YC, Kolatkar PR, Yong EL. Androgen receptor mutations causing human androgen insensitivity syndromes show a key role of residue M807 in Helix 8-Helix 10 interactions and in receptor ligand-binding domain stability. Mol Hum Reprod 2002: 8: 101-108.
20. Imperato-McGinley J, Peterson RE, Gautier T et al. Hormonal evaluation of a large kindred with complete androgen insensitivity: evidence for secondary 5 alpha-reductase deficiency. J Clin Endocrinol Metab 1982: 54: 931-941.
21. Jukier L, Kaufman M, Pinsky L, Peterson RE. Partial androgen resistance associated with secondary 5 alpha-reductase deficiency: identification of a novel qualitative androgen receptor defect and clinical implications. J Clin Endocrinol Metab 1984: 59: 679-688.
22. Kuttenn F, Mowszowicz I, Wright F et al. Male pseudohermaphroditism: a comparative study of one patient with 5α-reductase deficiency and three patients with the complete form of testicular feminization. J Clin Endocrinol Metab 1979: 49: 861-865.
23. Alward WL. The genetics of open-angle glaucoma: the story of GLC1A and myocilin. Eye 2000: 14: 429-436.
24. Sarfarazi M, Stoilov I. Molecular genetics of primary congenital glaucoma. Eye 2000: 14: 422-428.
25. Rocha EM, Wickham LA, da Silveira LA et al. Identification of androgen receptor protein and 5alpha-reductase mRNA in human ocular tissues. Br J Ophthalmol 2000: 84: 76-84.
26. Hedback G, Abrahamsson K, Husberg B, Granholm T, Oden A. The epidemiology of infantile hypertrophic pyloric stenosis in Sweden 1987-96. Arch Dis Child 2001: 85: 379-381.
27. Hernanz-Schulman M, Lowe LH, Johnson J et al. In vivo visualization of pyloric mucosal hypertrophy in infants with hypertrophic pyloric stenosis: is there an etiologic role? AJR Am J Roentgenol 2001: 177: 843-848.
28. Tucker MJ, Kalinowski AE, Orton TC. Carcinogenicity of cyproterone acetate in the mouse. Carcinogenesis 1996: 17: 1473-1476.
29. Al-Torki NA, Sabry MA, Al-Awadi SA, Al-Tarkeit N. Lowry-Maclean syndrome with osteopenic bones and possible autosomal dominant inheritance in a Bedouin family. Am J Med Genet 1997: 73: 491-492.
30. Kousseff BG, Ranells JD. Lowry-Maclean syndrome does exist. Am J Med Genet 1994: 53: 300-301.
31. Lowry RB, MacLean JR. Syndrome of mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, growth failure and craniosynostosis. Birth Defects Orig Artic Series 1977: 13: 203-228.
32. Turleau C, de Grouchy J, Dufier JL et al. Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13. Hum Genet 1981: 57: 300-306.