Identification of a new nonsense mutation (Tyr129Stop) of the SRY gene in a newborn infant with XY sex-reversal

American Journal of Medical Genetics

Volumn 128 A, Issue 1, 2004, Pages 46-47

  Giuffrè, Mario ^a   Sammarco, Piero ^b   Fabiano, Carmelo ^b   Giardina, Fabio ^b   Lunetta, Fabio ^b   Corsello, Giovanni ^a  

^a UNIVERSITY OF PALERMO   (Italy)

^b VILLA SOFIA CERVELLO HOSPITAL   (Italy)

Author keywords

Gonadal dysgenesis; Nonsense mutation; Sex determining region Y; Sex reversal

Indexed keywords

GUANINE; THYMINE; TYROSINE;

ARTICLE; CASE REPORT; DNA BINDING; FEMALE; GENE DELETION; GENE SEQUENCE; GONADAL DYSGENESIS; HIGH MOBILITY GROUP BOX DOMAIN; HUMAN; NEWBORN; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; POINT MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SEX TRANSFORMATION; SRY GENE; STOP CODON;

EID: 3042809502     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30075     Document Type: Article

References (13)

1. Affara NA, Chalmers IJ, Ferguson-Smith MA. 1993. Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain. Hum Mol Genet 2:785-789.
2. Bilbao JR, Loridan L, Castaño L. 1996. A novel postzygotic nonsense mutation in SRY in familiar XY gonadal dysgenesis. Hum Genet 97: 537-539.
3. Brown S, Yu CC, Lanzano P, Heller D, Thomas L, Warburton D, Kitajewski J, Stadtmauer L. 1998. A de novo mutation (Gln2Stop) at 5′ end of the SRY gene leads to sex reversal with partial ovarian function. Am J Hum Genet 62:189-192.
4. Cameron FJ, Sinclair AH. 1997. Mutation in SRY and SOX9: Testis determining genes. Hum Mutat 9:388-395.
5. Harley VR. 2002. The molecular action of testis-determining factors SRY and SOX9. Novartis Found Symp 244:57-66.
6. Hawkins JR. 1994. Sex determination. Hum Mol Genet 3:1463-1467.
7. Hawkins JR, Taylor A, Berta P, Levilliers J, Van der Auwera B, Goodfellow PN. 1992. Mutational analysis of SRY: Nonsense and missense mutations in XY sex reversal. Hum Genet 88:471-474.
8. Iida T, Nakahori Y, Komaki R, Mori E, Hayashi N, Tsutsumi O, Taketani Y, Nakagome Y. 1994. A novel nonsense mutation in the HMG box of the SRY gene in a patient with XY sex reversal. Hum Mol Genet 3:1437-1438.
9. McElreavey KD, Vilain E, Abbas N, Costa JM, Souleyreau N, Kucheria K, Boucekkine C, Thibaud E, Brauner R, Flamant F, Fellous M. 1992a. XY sex reversal associated with a deletion 5′ to the SRY "HMG box" in the testis-determining region. Proc Natl Acad Sci USA 89:11016-11020.
10. McElreavey KD, Vilain E, Boucekkine C, Vidaud M, Jaubert F, Richaud F, Fellous M. 1992b. XY sex reversal associated with a nonsense mutation in SRY. Genomics 13:838-840.
11. Miller SA, Dykes DD, Polesky HF. 1988. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:12-15.
12. Müller J, Schwartz M, Skakkebeek NE. 1992. Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patient: Point-mutation in SRY causing sex-reversion in a 46,XY female. J Clin Endocrinol Metab 75:331-333.
13. Veitia R, Ion A, Barbaux S, Jobling MA, Souleyreau N, Ennis K, Ostrer H, Tosi M, Meo T, Chibani J, Fellous M, McElreavey K. 1997: Mutation and sequence variants in the testis-determining region of the Y chromosome in individual with a 46,XY female phenotype. Hum Genet 99:648-652.