Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndrome

Pediatric Research

Volumn 46, Issue 6, 1999, Pages 684-690

  Holterhus, Paul Martin ^a   Wiebel, Jens ^b   Sinnecker, Gernot H G ^c   Brüggenwirth, Hennie T ^e   Sippell, Wolfgang G ^d   Brinkmann, Albert O ^e   Kruse, Klaus ^a   Hiort, Olaf ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

^b Practice of Pediatric Endocrinology   (Germany)

^c Dept of Pediat and Adol Medicine ^*  (Germany)

^d UNIVERSITY OF KIEL   (Germany)

^e ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR; SEX HORMONE BINDING GLOBULIN; STANOZOLOL;

ADULT; ANDROGEN INSENSITIVITY SYNDROME; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; HORMONE ACTION; HUMAN; INFANT; MALE; MOSAICISM; PRIORITY JOURNAL; SCHOOL CHILD; SOMATIC MUTATION; VIRILIZATION; X CHROMOSOME;

EID: 0032703696     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/00006450-199912000-00009     Document Type: Article

References (29)

1. Sultan C, Lumbroso S, Poujol N, Belon C, Boudon C, Lobaccaro JM 1993 Mutations of androgen receptor gene in androgen insensitivity syndromes. J Steroid Biochem Mol Biol 46:519-530
2. Patterson MN, McPhaul MJ, Hughes IA 1994 Androgen insensitivity syndrome. Baillieres Clin Endocrinol Metab 8:379-404
3. Brüggenwirth HT, Boehmer ALM. Verleun-Mooijman MCT, Hoogenboezem T, Kleijer W, Otten B, Trapman J, Brinkmann AO 1996 Molecular basis of androgen insensitivity. J Steroid Biochem Mol Biol 58:569-575
4. Hiort O, Wodtke A, Struwe D, Zöllner A, Sinnecker GHG, German Collaborative Intersex Study Group 1994 Detection of point mutations in the androgen receptor gene using non-isotopic single strand conformation polymorphism analysis. Hum Mol Genet 3:1163-1166
5. Quigley CA, DeBellis A, Marschke KB, El-Awady MK, Wilson EM, French FS 1995 Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr Rev 16:271-321
6. Bevan CL, Brown BB, Davies HR, Evans BAJ, Hughes IA, Patterson MN 1996 Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome. Hum Mol Genet 5:265-273
7. Bevan CL, Hughes IA, Patterson MN 1997 Wide variation in androgen receptor dysfunction in complete androgen insensitivity syndrome. J Steroid Biochem Mol Biol 61:19-26
8. Rodien P, Mebarki F, Mowszowicz I, Chaussin JL, Young J, Morel Y, Schaison G 1996 Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene. J Clin Endocrinol Metab 81:2994-2998
9. Evans BA, Hughes IA, Bevan CL, Patterson MN, Gregory JW 1997 Phenotypic diversity in siblings with partial androgen insensitivity syndrome. Arch Dis Child 76:529-531
10. Holterhus PM, Brüggenwirth HT, Hiort O, Kleinkauf-Houcken A, Kruse K, Sinnecker GHG, Brinkmann AO 1997 Mosaicism due to a somatic mutation of the androgen receptor gene determines phenotype in androgen insensitivity syndrome. J Clin Endocrinol Metab 82:3584-3589
11. Hiort O, Sinnecker GHG, Holterhus PM, Nitsche EM, Kruse K 1998 Inherited and de novo androgen receptor gene mutations: investigation of single case families. J Pediatr 132:939-943
12. Boehmer ALM, Brinkmann AO, Niermeyer MF, Bakker L, Halley DJJ, Drop SLS 1997 Germ-line and somatic mosaicism in the androgen insensitivity syndrome: implications for genetic counseling. Am J Hum Genet 60:1003-1006
13. Sinnecker GHG, Hiort O, Nitsche EM, Holterhus PM, Kruse K, German Collaborative Intersex Study Group 1996 Functional assessment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene. Eur J Pediatr 156:7-14
14. Hiort O, Huang Q, Sinnecker GHG, Sadeghi-Nejad A, Kruse K, Wolfe H, Yandell W 1993 Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling, and therapy. J Clin Endocrinol Metab 77:262-266
15. Holterhus PM, Sinnecker GHG, Wollmann HA, Struve D, Homburg N, Kruse K, Hiort O 1999 Expression of two functionally different androgen receptors in a patient with androgen insensitivity. Eur J Pediatr 158:702-706
16. Feldman HA 1972 Mathematical theory of complex ligand-binding systems at equilibrium: some methods for parameter fitting. Anal Biochem 48:317-338
17. Clark JH, Peck Jr EJ, Markaverich BM 1988 Steroid hormone receptors: basic principles and measurement. In: Schrader WT, O'Malley BW (eds) Laboratory Methods Manual for Hormone Action and Molecular Endocrinology. Department of Cell Biology, Baylor College of Medicine, Texas Medical Center, Houston, TX, pp 1-54
18. Brinkmann AO, Faber PW, van Rooij HCJ, Kuiper GGJM, Ris C, Klaassen P, van der Korput JAGM, Voorhorst MM, van Laar JH, Mulder E, Trapman J 1989 The human androgen receptor: domain structure, genomic organization and regulation of expression. J Steroid Biochem Mol Biol 34:307-310
19. Chen C, Okayama H 1987 High-efficiency transformation of mammalian cells by plasmid DNA. Mol Cell Biol 7:2745-2752
20. Marcelli M, Tilley WD, Zoppi S, Griffin JE, Wilson JD, McPhaul MJ 1991 Androgen resistance associated with a mutation of the androgen receptor at amino acid 772 (Arg-Cys) results from a combination of decreased messenger ribonucleic acid levels and impairment of receptor function. J Clin Endocrinol Metab 73:818-325
21. Prior L, Bordet S, Trifiro M, Mhatre A, Kaufman M, Pinsky L, Wrogemann K, Belsham DD, Pereira F, Greenberg C, Trapman J, Brinkmann AO, Chane C, Liao S 1992 Replacement of arginine 773 by cysteine of histidine in the human androgen receptor causes complete androgen insensitivity with different receptor phenotypes. Am J Hum Genet 51:143-155
22. Zoppi S, Wilson CM, Harbison MD Griffin JE, Wilson JD, McPhaul MJ, Marcelli M 1993 Complete testicular feminization caused by an amino-terminal truncation of the androgen receptor with downstream initiation. J Clin Invest 91:1105-1112
23. Brown TR, Lubahn DB, Wilson EM, French FS, Migeon CJ, Corden JL 1990 Functional characterization of naturally occurring mutant androgen receptors from patients with complete androgen insensitivity. Mol Endocrinol 4:1759-1772
24. Kazemi-Esfarjani P, Beitel LK, Trifiro M, Kaufman M, Rennie P, Sheppard P, Matusik R, Pinsky L 1993 Substitution of valine-865 by methionine or leucine in the human androgen receptor causes complete or partial androgen insensitivity, respectively with distinct androgen receptor phenotypes. Mol Endocrinol 7:37-46
25. McPhaul MJ, Marcelli M, Zoppi S, Wilson CM, Griffin JE, Wilson JD 1992 Mutations in the ligand binding domain of the androgen receptor gene cluster in two regions of the gene. J Clin Invest 90:2097-2101
26. Klocker H, Kaspar F, Eberle J, Überreiter S, Radmayr C, Bartsch G 1992 Point mutation in the DNA binding domain of the androgen receptor in two families with Reifenstein syndrome. Am J Hum Genet 50:1318-1327
27. Leslie ND 1998 Haldane was right: de novo mutations in androgen insensitivity syndrome J Pediatr 132:917-918
28. Saito K, Ikeya K, Kondo E, Komine S, Komine M, Osawa M, Aikawa E, Fukuyama Y 1995 Somatic mosaicism for a DMD gene deletion. Am J Med Genet 56:80-86
29. Levinson B, Lehesjoki AE, de la Chapelle A, Gitschier J 1990 Molecular analysis of hemophilia A mutations in the Finnish population. Am J Hum Genet 46:53-62