A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patient

BMC Medical Genetics

Volumn 11, Issue 1, 2010, Pages

  Shahid, Mohammad ^a,c   Dhillon, Varinderpal S ^b   Khalil, Hesham S ^c   Haque, Shameemul ^d   Batra, Swaraj ^e   Husain, Syed A ^d   Looijenga, LHJ ^f  

^a PRINCE SATTAM BIN ABDULAZIZ UNIVERSITY   (Saudi Arabia)

^b CSIRO   (Australia)

^c KING SAUD UNIVERSITY   (Saudi Arabia)

^d JAMIA MILLIA ISLAMIA CENTRAL UNIVERSITY   (India)

^e Department of Obstetrics and Gynecology   (India)

^f ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR SOX; SRY PROTEIN, HUMAN; TESTIS DETERMINING FACTOR;

ADULT; ARTICLE; ASTHENOSPERMIA; BINDING AFFINITY; CASE REPORT; CHROMOSOME ANALYSIS; DNA BINDING; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENETIC ASSOCIATION; GENETIC SCREENING; GONADAL DYSGENESIS; GONADOBLASTOMA; HIGH MOBILITY GROUP BOX DOMAIN; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; KARYOTYPE 45,X; KARYOTYPE 46,XY; MALE; MOSAICISM; PHYSICAL EXAMINATION; SEMINOMA; TURNER SYNDROME; GENETICS; MIDDLE AGED; PEDIGREE;

ADULT; FEMALE; FRAMESHIFT MUTATION; HUMANS; MALE; MIDDLE AGED; MOSAICISM; PEDIGREE; SEX-DETERMINING REGION Y PROTEIN; TURNER SYNDROME;

EID: 77956584462     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-11-131     Document Type: Article

References (34)

1. Gimelli G, Gimelli S, Dimasi N, Bocciardi R, Di Battista E, Pramparo T, Zuffardi O. Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis. Eur J Hum Genet 2007, 15:76-80. 10.1038/sj.ejhg.5201719, 17063144.
2. Lopez M, Canto P, Aguinaga M. Frequency of Y chromosomal material in Mexican patients with Ullrich-Turner syndrome. Am J Med Genet 1998, 76:120-124. 10.1002/(SICI)1096-8628(19980305)76:2<120::AID-AJMG3>3.0.CO;2-X, 9511973.
3. Patsalis PC, Sismani C, Hadjimarcou MI. Detection and incidence of cryptic Y chromosome sequences in Turner syndrome patients. Clin Genet 1998, 53:249-257. 10.1111/j.1399-0004.1998.tb02691.x, 9650760.
4. Scully RE. Gonadoblastoma: a review of 74 cases. Cancer 1970, 25:1340-1356. 10.1002/1097-0142(197006)25:6<1340::AID-CNCR2820250612>3.0.CO;2-N, 4193741.
5. Sinclair AH, Beerta P, Palmer MS, Hawkins JR, Griffiths BL, Goodfellow PN, Fellous M. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 1990, 346:240-244. 10.1038/346240a0, 1695712.
6. Brennan J, Capel B. One tissue, two fates: molecular genetic events that underlie testis versus ovary development. Nat Rev Genet 2004, 5:509-521. 10.1038/nrg1381, 15211353.
7. Koopman P, Gubbay J, Vivian N, Goodfellow P, Lovell-Badge R. Male development of chromosomally female mice transgenic for Sry. Nature 1991, 351:117-21. 10.1038/351117a0, 2030730.
8. Harley VR, Jackson DI, Hextall PJ, Hawkins JR, Berkovitz GD, Sockanathan S, Lovell-Badge R, Goodfellow PN. DNA binding activity of recombinant SRY from normal males and XY females. Science 1992, 255:453-456. 10.1126/science.1734522, 1734522.
9. Behlke MA, Began JS, Page DC. Evidence that the SRY protein encoded by a single exon on the human Y-chromosome. Genomics 1993, 17:736-739. 10.1006/geno.1993.1395, 8244390.
10. Cameron FJ, Sinclair AH. Mutations in SRY, SOX9: testis determining gene. Human Mutat 1997, 9:388-395.
11. Margarit E, Soler A, Carrio A, Oliva R, Costa D, Vendrell T, Rosell J, Ballesta F. Molecular, cytogenetic and clinical characterization of six XX males including one prenatal diagnosis. J Med Genet 1998, 35:727-730. 10.1136/jmg.35.9.727, 1051424, 9733030.
12. Assumpcao JG, Benedetti CE, Maciel-Guerra AT, Guerra G, Baptista MTM, Scolfaro MR, de Mello MP. Novel mutations affecting SRY DNA-binding activity: the HMG box N65 H associated with 46, XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotype. J Mol Med 2002, 80:782-790. 10.1007/s00109-002-0376-9, 12483463.
13. Shahid M, Dhillon VS, Jain N, Hedau S, Diwakar S, Sachdeva P, Batra S, Das BC, Husain SA. Two new novel point mutations localized upstream and downstream of the HMG box region of the SRY gene in three Indian 46, XY females with sex reversal and gonadal tumour formation. Mol Hum Reprod 2004, 10:521-526. 10.1093/molehr/gah071, 15155818.
14. McElreavey K, Fellous M. Sex determination and the Y chromosome. Am J Med Genet 1999, 89:176-185. 10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B, 10727993.
15. Pontiggia A, Rimini R, Harley VR, Goodfellow PN, Lovell-Badge R, Bianchi ME. Sex-reversing mutations affect the architecture of SRY-DNA complexes. EMBO J 1994, 13:6115-6124. 395591, 7813448.
16. Sudbeck P, Scherer G. Two independent nuclear localization signals are present in the DNA-binding high-mobility group domains of SRY and SOX9. J Biol Chem 1997, 272:27848-27852. 10.1074/jbc.272.44.27848, 9346931.
17. Wilson M, Koopman P. Matching SOX: partner proteins and cofactors of the SOX family of transcriptional regulators. Curr Opin Genet Dev 2002, 12:441-446. 10.1016/S0959-437X(02)00323-4, 12100890.
18. Werner MH, Bianchi ME, Gronenborn AM, Clore GM. NMR spectroscopic analysis of the DNA conformation induced by the human testis determining factor SRY. Biochemistry 1995, 34:11998-12004. 10.1021/bi00037a042, 7547937.
19. Takagi A, Imai A, Tamaya T. A novel sex-determining region on Y (SRY) nonsense mutation identified in a 45, X/47, XYY female. Fertil Steril 1999, 72:167-169. 10.1016/S0015-0282(99)00168-5, 10428169.
20. Canto P, De La Chesnaye E, Lopez M, Cervantes A, Chavez B, Vilchis F, Reyes E, Ulloa-Auirre A, Kofman-Alfaro S, Mendez JP. A mutation in the 5' non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism. J Clin Endocrinol Metab 2000, 85:1908-1911. 10.1210/jc.85.5.1908, 10843173.
21. Fernandez R, Marchal JA, Sanchez A, Pasaro E. A point mutation, R59G, within HMG-SRY box in a female 45, X/46, X, psu dic(Y)(pter→q11::q11→pter). Hum Genet 2002, 111:242-246. 10.1007/s00439-002-0767-6, 12215836.
22. Shahid M, Dhillon VS, Aslam M, Husain SA. Three new novel point mutations localized within and downstream of High-Mobility Group-box region in SRY gene in three Indian females with Turner syndrome. J Clin Endocrinol Metab 2005, 90:2429-2435. 10.1210/jc.2004-1110, 15687343.
23. McElreavey K, Vilain E, Abbas N, Costa JM, Souleyreau N, Kucheria K, Boucekkine C, Thibaud E, Brauner R, Flamant F. XY sex reversal associated with deletion 50 to the SRY HMG-box in the testis determining region. Proc Natl Acad Sci USA 1992, 89:11016-11020. 10.1073/pnas.89.22.11016, 50474, 1438307.
24. Isidor B, capito C, Paris F, Baron S, Corradini N, Cabaret B, Leclair M-D, Giraud M, Martin-Coignard D, David A, Sultan C, Le Caignec C. Familial frame shift SRY mutation inherited from a mosaic father with testicular dysgenesis syndrome. J Clin Endocrin Metab 2009, 94:3467-3471.
25. Manuel M, Katayama KP, Jones HW. The age of occurrence of gonadal tumors in intersexes patients with a Y chromosome. Am J Obstet Gynecol 1976, 124:293-300.
26. Schmitt-Ney M, Thiele H, Kaltwaber P, Bardoni B, Cisternino M, Scherer G. Two novel SRY missense mutation reducing DNA binding identified in XY females and their mosaic father. Am J Hum Genet 1993, 56:862-869.
27. Tajima T, Nakae J, Shinohara N, Fujieda K. A novel mutation localized in the 3' non-HMG box region of the SRY gene in 46, XY gonadal dysgenesis. Hum Mol Genet 1994, 3:1187-1189. 10.1093/hmg/3.7.1187, 7981695.
28. Uehara S, Funato T, Yaegashi N, Suzuki H, Sato J, Sasaki T, Yajima A. SRY mutation and tumor formation on the gonads of XY pure gonadal dysgenesis patients. Cancer Genet Cytogenet 1999, 113:78-84. 10.1016/S0165-4608(99)00010-2, 10459352.
29. Uehera S, Hashiyada M, Sato K, Nata M, Funato T, Okamura K. Complete XY gonadal dysgenesis and aspects of the SRY genotype and gonadal tumor formation. J Hum Genet 2002, 47:279-284. 10.1007/s100380200040, 12111377.
30. Page DC. Hypothesis: a Y chromosomal gene causes gonadoblastoma in dysgenetic gonads. Development 1987, 101:151-155.
31. Kersemaekers AM, Honecker F, Stoop H, Cools M, Molier M, Wolffenbuttel K, Bokemeyer C, Li Y, Lau YF, Oosterhuis JW, Looijenga LH. Identification of germ cells at risk for neoplastic transformation in gonadoblastoma: an immunohistochemical study for OCT3/4 and TSPY. Hum Pathol 2005, 36:512-521. 10.1016/j.humpath.2005.02.016, 15948118.
32. Lau YF. Gonadoblastoma, testicular and prostate cancers, and the TSPY gene. Am J Hum Genet 1999, 64:921-927. 10.1086/302353, 1377814, 10090875.
33. Braun A, Kammerer S, Cleve H, Löhrs U, Schwarz HP, Kuhnle U. True hermaphroditism in a 46, XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex determining locus (SRY): molecular genetics and histological findings in a sporadic case. Am J Hum Genet 1993, 52:578-85. 1682159, 8447323.
34. Cools M, Drop SL, Wolffenbuttel KP, Oosterhuis JW, Looijenga LH. Germ cell tumors in the intersex gonad: old paths, new directions, moving frontiers. Endocr Rev 2006, 27:468-84. 10.1210/er.2006-0005, 16735607.