A PAX3 polymorphism (T315K) in a family exhibiting Waardenburg Syndrome type 2 (WS2)

Molecular and Cellular Probes

Volumn 12, Issue 1, 1998, Pages 55-57

  Wang, Cynthia ^a   Kim, Eugene ^a   Attaie, Ali ^a   Smith, Tenesha N ^a   Wilcox, Edward R ^a   Lalwani, Anil K ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b Dept Otolaryngol Hd Neck Surg   (United States)

Author keywords

Amplification refractory mutation system (ARMS); Deafness; Microphthalmia associated transcription factor (MITF); PAX3; Transcription factor; Waardenburg Syndrome

Indexed keywords

TRANSCRIPTION FACTOR;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CONTROLLED STUDY; GENE MUTATION; GENETIC POLYMORPHISM; HETEROTOPIA; HUMAN; PERCEPTION DEAFNESS; PIGMENT DISORDER; PRIORITY JOURNAL; WAARDENBURG SYNDROME;

EID: 0031776503     PISSN: 08908508     EISSN: None     Source Type: Journal    
DOI: 10.1006/mcpr.1997.0149     Document Type: Article

References (9)

1. Waardenburgh, 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. McKusick, V.M. (1994). Mendelian Inheritance in Man, 11th edn. Baltimore: Johns Hopkins University Press.
3. Tassabehji, M., Read, A.P., Newton, V.E. et al. (1992). Waardenburg syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 355, 635-6.
4. Baldwin, C.T., Hoth, C.F., Amos, J.A., da-Silva, E.O. & Milunsky, A. (1992). An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature 355, 637-8.
5. Hoth, C.F., Milunsky, A., Lipsky, N., Sheffer, R., Sterling, C.K. & Baldwin, C.T. (1993). Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg Syndrome (WS-III) as well as Waardenburg Syndrome Type I (WS-I). American Journal of Human Genetics 52, 455-62.
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7. Tassabehji, M., Newton, V.E., Liu, X.-Z. et al. (1995). The mutational spectrum in Waardenburg syndrome. Human Molecular Genetics 4, 2131-7.
8. Dracopoli, N.C., Haines, J.L., Korf, B.R. et al. (1995). Amplification-refractory mutation system (ARMS) analysis of point mutations. In Current Protocols in Human Genetics, 2nd edn, chapter 8. John Wiley & Sons, Inc.
9. Tremblay, P. & Gruss, P. (1994). PAX: genes for mice and men. Pharmacology and Therapeutics 61, 205-26.