A splice-site mutation affecting the paired box of PAX3 in a three generation family with Waardenburg syndrome type I (WS1)

Molecular and Cellular Probes

Volumn 11, Issue 3, 1997, Pages 233-236

  Attaie, Ali ^a   Kim, Eugene ^a   Wilcox, Edward R ^b   Lalwani, Anil K ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

Author keywords

Deafness; Paired box; PAX3; Splice site mutation; Transcription factor; Waardenburg syndrome

Indexed keywords

TRANSCRIPTION FACTOR;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 2Q; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILY STUDY; FEMALE; HOMEOBOX; HUMAN; MALE; POINT MUTATION; PRIORITY JOURNAL; RNA SPLICING; WAARDENBURG SYNDROME;

EID: 0031170823     PISSN: 08908508     EISSN: None     Source Type: Journal    
DOI: 10.1006/mcpr.1997.0101     Document Type: Article

References (13)

1. 1. Waardenburg, P.J. (1951). A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. American Journal of Human Genetics 3, 195-253.
2. 2. McKusick, V. M. (1994). Mendelian Inheritance in Man. 11th edn, Baltimore: Johns Hopkins University Press.
3. 3. Foy, C., Newton, V., Welleslwy, D. et al. (1990). Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the splotch mouse. American Journal of Human Genetics 46, 1017-23.
4. 2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3. Cell 67, 767-74.
5. 5. Baldwin, C. T., Hoth, C. F., Amos, J. A. et al. (1992). An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature 355, 637-8.
6. 6. Tassabehji, M., Read, A. P., Newton, V. E. etal. (1992). Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 355, 635-6.
7. 7. Chalepakis, G., Goulding, M., Road, A. et al. (1994). Molecular basis of splotch and Waardenburg pax-3 mutations. Proceedings of the National Academy of Sciences, USA 91, 3685-9.
8. 8. Tassabehji, M., Newton, V. E. & Read, A. P. (1994). Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nature Genetics 8, 251-5.
9. 9. Tassabehji, M., Newton, V. E., Liu, X. Z. et al. (1995). The mutational spectrum in Waardenburg syndrome. Human Molecular Genetics 4, 2131-7.
10. 10. Lalwani, A. K., Brister, J. R., Fex, J. et al. (1995). Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families. American Journal of Human Genetics 56, 75-83.
11. 11. Baldwin, C. T., Hoth, C. E., Macina, R. A. & Milunsky, J. (1995). Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature. American Journal of Medical Genetics 58. 115-22.
12. 12. Epstein, D.J., Vogan, K. J., Trasler, D. G. et al. (1993). A mutation within intron 3 of the Pax-3 gene produces aberrantly spliced mRNA transcripts in the splotch (Sp) mouse mutant. Proceedings of the National academy of Sciences, USA 90, 532-6.
13. 13. Morell, R., Friedman, T. B. & Asher, J. H. Jr. (1993). A plus-one frameshift mutation in PAX3 alters the entire deduced amino acid sequence of the paired box in a Waardenburg syndrome type 1 (WS1) family. Human Molecular Genetics 2, 1487-8.