Complete XY gonadal dysgenesis and aspects of the SRY genotype and gonadal tumor formation

Journal of Human Genetics

Volumn 47, Issue 6, 2002, Pages 279-284

  Uehara, S ^a   Hashiyada, M ^a   Sato, K ^a   Nata, M ^a   Funato, T ^a   Okamura, K ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Cryptic deletion on the Y chromosome; Dysgerminoma; Gonadoblastoma; Prophylactic gonadectomy; SRY mutation; XY sex reversal

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CANCER INCIDENCE; CARCINOGENESIS; CASE REPORT; CHROMOSOME MUTATION; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DYSGERMINOMA; FEMALE; GENOTYPE; GONAD TUMOR; GONADAL DYSGENESIS; GONADECTOMY; HUMAN; HUMAN CELL; META ANALYSIS; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PHENOTYPE; SEQUENCE ANALYSIS; SEX TRANSFORMATION; Y CHROMOSOME; GENETICS; PATHOLOGY; POLYMERASE CHAIN REACTION; SEX CHROMOSOME ABERRATION;

ADOLESCENT; ADULT; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; GENOTYPE; GONADAL DYSGENESIS, 46,XY; HUMAN; MUTATION, MISSENSE; NEOPLASMS, GONADAL TISSUE; POLYMERASE CHAIN REACTION; SEX CHROMOSOME ABERRATIONS; Y CHROMOSOME; HUMANS; NUCLEAR PROTEINS; SEX-DETERMINING REGION Y PROTEIN; TRANSCRIPTION FACTORS;

DNA BINDING PROTEIN; NUCLEAR PROTEIN; SRY PROTEIN, HUMAN; TESTIS DETERMINING FACTOR; TRANSCRIPTION FACTOR;

EID: 0035987001     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380200040     Document Type: Article

References (40)

1. Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain
2. XY gonadal dysgenesis and gonadoblastoma: A study in two sisters with a cryptic deletion of the Y chromosome involving the SRY gene
3. A novel postzygotic nonsense mutation in SRY in familial XY gonadal dysgenesis
4. A de novo mutation (Gln25stop) at the 5′ end of the SRY gene leads to sex reversal with partial ovarian function
5. Mutations in SRY and SOX9: Testis-determining genes
6. Small deletions of the short arm of the Y chromosome in 46,XY females
7. A novel missense mutation (S18N) in the 5′ non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives
8. Short stature as the only presenting feature in a patient with an isodicentric (Y)(q11.23) and gonadoblastoma. A clinical and molecular cytogenetic study
9. A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes
10. Definition of a consensus DNA binding site for SRY
11. Mutation analysis of SRY: Nonsense and missense mutations in XY sex reversal
12. Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis
13. True hermaphroditism with 46,XY karyotype and a point mutation in the SRY gene
14. A novel nonsense mutation in the HMG box of the SRY gene in a patient with XY sex reversal
15. A human XY female with a frame shift mutation in the candidate testis-determining gene SRY
16. A familial mutation in the testis-determining gene SRY shared by both sexes
17. Male development of chromosomally female mice transgenic for Sry
18. Mutation and cancer: Statistical study of retinoblastoma
19. Mutation and cancer: Neuroblastoma and pheochromocytoma
20. Mutation analysis of the 2 kb 5′ to SRY in XY females and XY intersex subjects
21. Functional coherence of the human Y chromosome
22. Expression analysis of 31 Y chromosome genes in human prostate cancer
23. The age of occurrence of gonadal tumors in intersex patients with a Y chromosome
24. Embryonic testicular regression sequences: A part of the clinical spectrum of 46,XY gonadal dysgenesis
25. XY sex reversal associated with a deletion 5′ to the SRY "HMG box" in the testis-determining region
26. XY sex reversal associated with a nonsense mutation in SRY
27. Loss of sequences 3′ to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination
28. Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: Point-mutation in SRY causing sex-reversion in a 46,XY female
29. A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal
30. Hypothesis: A Y-chromosome gene causes gonado-blastoma in dysgenetic gonads
31. Description and functional implications of a novel mutation in the sex determining gene SRY
32. Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations
33. Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers
34. Gonadoblastoma: A review of 74 cases
35. In situ hybridization analysis of the Y chromosome in gonadoblastoma
36. A novel mutation localized in the 3′ non-HMG box region of the SRY gene in 46,XY gonadal dysgenesis
37. SRY mutation and tumor formation on the gonads of XY pure gonadal dysgenesis patients
38. Abnormal sexual differentiation and neoplasia
39. Report of the Third International Workshop on Y chromosome Mapping 1997
40. A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis