Screening for mutations in the WNT-4 gene in patients with 46,XX true hermaphroditism

Molecular Genetics and Metabolism

Volumn 83, Issue 4, 2004, Pages 341-343

  Canto, Patricia ^a   Razo, Selene ^a   Söderlund, Daniela ^a   Calzada León, Raúl ^b   De La Luz Ruiz Reyes, María ^b   Ramón, Guillermo ^a   Braun Roth, Gabriela ^b   Méndez, Juan Pablo ^a  

^a HOSPITAL DE PEDIATRÍA   (Mexico)

^b SECRETARÍA DE SALUD   (Mexico)

Author keywords

46, XX true hermaphroditism; Sex determination; SRY gene; WNT 4 gene

Indexed keywords

UNCLASSIFIED DRUG; WNT PROTEIN; WNT4 PROTEIN;

ALLELE; ARTICLE; CONTROLLED STUDY; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GONAD; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; INTRON; KARYOTYPE 46,XX; LEUKOCYTE; MALE; MUTANT; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; SRY GENE; TRUE HERMAPHRODITISM;

EID: 13844317750     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2004.08.011     Document Type: Article

References (11)

1. A.H. Sinclair, P. Berta, M.S. Palmer, J.R. Hawkins, B.L. Griffiths, M.J. Smith, J.W. Foster, A.M. Frischauf, R. Lovell-Badge, and P.N. Goodfellow A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif Nature 346 1990 240 244
2. N. Jarrah, H. El-Shanti, A. Khier, F.N. Obeidat, A. Haddidi, and K. Ajlouni Familial disorder of sex determination in seven individuals from three related sibships Eur. J. Pediatr. 159 2000 912 918
3. L. Torres, M. López, J.P. Méndez, P. Canto, A. Cervantes, G. Alfaro, G. Pérez-Palacios, R.P. Erickson, and S. Kofman-Alfaro Molecular analysis in true hermaphrodites with different karyotypes and similar phenotypes Am. J. Med. Genet. 63 1996 348 355
4. C. Boucekkine, J.E. Toublanc, N. Abbas, S. Chaabouni, S. Ouahid, M. Semrouni, F. Jaubert, M. Toublanc, K. McElreavey, E. Vilain, and M. Fellous Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA-sequences Clin. Endocrinol. 40 1994 733 742
5. K. Stark, S. Vainio, G. Vassileva, and A.P. McMahon Epithelial transformation of metanephric mesenchyme in the developing kidney regulated by Wnt-4 Nature 372 1994 679 683
6. K. Jeays-Ward, Ch. Hoyle, J. Brennan, M. Dandonneau, G. Alldus, B. Capel, and A. Swain Endothelial and steroidogenic cell migration are regulated by WNT4 in the developing mammalian gonad Development 130 2003 3663 3670
7. S. Vainio, M. Heikkilä, A. Kispert, N. Chin, and A.P. McMahon Female development in mammals is regulated by Wnt-4 signalling Nature 397 1999 405 409
8. B.K. Jordan, M. Mohammed, S.T. Ching, E. Délot, X.-N. Chen, P. Dewing, A. Swain, P. Nagesh Rao, B.R. Elejalde, and E. Vilain Up-regulation of Wnt-4 signaling and dosage-sensitive sex reversal in humans Am. J. Hum. Genet. 68 2001 1102 1109
9. J. Sambrook, and D. Russell Preparation and analysis of eukaryotic genomic DNA C. Nolan Molecular Cloning: A Laboratory Manual 2001 Cold Spring Harbor Laboratory Press New York 6.1 6.1.31
10. E.U.-H. Sim, A. Smith, E. Szilagi, F. Rae, P. Ioannou, M.H. Lindsay, and M.H. Little Wnt-4 regulation by the Wilms' tumour suppressor gene, WT1 Oncogene 21 2002 2948 2960
11. J. Sambrook, and D. Russell In vitro amplification of DNA by the Polymerase chain reaction C. Nolan Molecular Cloning: A Laboratory Manual 2001 Cold Spring Harbor Laboratory Press New York 8.1 8.126