Phenotypic variation in Waardenburg syndrome: Mutational heterogeneity, modifier genes or polygenic background?

Human Molecular Genetics

Volumn 5, Issue 4, 1996, Pages 497-502

  Pandya, Arti ^a   Xia, Xia Juan ^a   Landa, Barbara L ^a   Arnos, Kathleen S ^b   Israel, Jamie ^b   Lloyd, Joyce ^a   James, Anthony L ^a   Diehl, Scott R ^c   Blanton, Susan H ^d   Nance, Walter E ^a  

^a VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b GALLAUDET UNIVERSITY   (United States)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

^d UNIVERSITY OF VIRGINIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HOMEODOMAIN PROTEIN;

ALLELE; ARTICLE; CODON; CONTROLLED STUDY; EPISTASIS; EXON; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MONOZYGOTIC TWINS; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; PRIORITY JOURNAL; WAARDENBURG SYNDROME;

AMINO ACID SEQUENCE; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA-BINDING PROTEINS; EXONS; GENETIC HETEROGENEITY; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; PAIRED BOX TRANSCRIPTION FACTORS; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; TRANSCRIPTION FACTORS; WAARDENBURG'S SYNDROME;

EID: 13344281005     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.4.497     Document Type: Article

References (38)

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. Am. J Hum. Genet. 3: 195-253.
2. Amos, K.S., Pandya, A., Markello, T., Israel, J., Landa, B., Blanton, S. and Nance, W.E. A kindred with unusual features of Waardenburg syndrome and familial tremor. [Abstract] (1994) Am. J. Hum. Genet. 55: 426.
3. Chatkupt, S., Chatkupt, S., Johnson, W.G. (1993) Waardenburg syndrome and myelomeningocele in a family J. Med. Genet. 30, 83-84.
4. Omenn, G.S. and McKusick, V.A. (1979) The association of Waardenburg syndrome and Hirschsprung mecacolon. Am. J. Med. Genet. 3: 271-275.
5. Valenzuela, G., Weber, F.H., Nance, W. and McCallum, R.W. (1995) Waardenburg syndrome and gastric stasis in adults. V.M.Q. 122: 279-280.
6. Arias, S. and Mota M. (1978) Apparent non-penetrance for dystopia in Waardenburg syndrome type 1, with some hints on the diagnosis of dystopia canthorum. J. Genet. Hum. 26: 103-131.
7. Farrer, L.A., Grundfast, K.M., Arnos, J., Arnos, K.S., Asher, J.H. Jr., Beighton, P., Diehl, S.R. and Fex, Jorgen. (1992) Waardenburg syndrome (WS) type 1 is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report of the WS Consortium. Am. J. Hum. Genet. 50: 902-913.
8. Zlotogora, J., Lerer, I., Bar-David, S., Ergaz, Z. and Abeliovich, D. (1995) Homozygosity for Waardenburg syndrome. Am. J. Hum. Genet. 56: 1173-1178.
9. Hoth, C.F., Milunsky, A., Lipsky, N., Sheffer, R., Clarren, S.K. and 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 1 (WS-1) Am. J. Hum. Genet. 52. 455-462.
10. Pasteris, N.G , Trask, B.J., Sheldon, S. and Gorski, J.L. (1993) Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35. Hum. Mol. Genet. 2: 953-959
11. Chalepakis, G., Jones, F.S., Edelman, G.M. and Gruss, P. (1994) Pax-3 contains domains for transcription activation and transcription inhibition. Proc. Natl Acad. Sci. USA 91: 12745-12749.
12. Bennicelli, J.L., Fredericks, W.J., Wilson, R.B., Rauscher, F.J. and Barr, F.G. (1995) Wild type PAX3 protein and the PAX3-FKHR fusion protein of alveolar rhabdomyosarcoma contain potent, structurally distinct transcriptional activation domains. Oncogene 11: 119-130.
13. Asher, J.H. Jr., Gillikin, L., Swenson, L B., Dolan, D.F., Morell, R., and Friedman, T.B. (1995) Hearing and deaf splotch mice: A murine model for deafness in Waardenburg syndrome? In: The Molecular Biology of Hearing and Deafness Bethesda, Maryland, USA, October 6-8 , 1995, p 46.
14. Moase, C.E. and Trasler, D.G. (1992) Splotch locus mouse mutants: models for neural tube defects and Waardenburg syndrome type 1 in humans. J. Med. Genet. 29: 145-151.
15. Goulding, M.D., Chalepakis, G., Deutsch, U., Erselius, J R. and Gruss, P. (1991) Pax-3, a novel murine DNA binding protein expressed during early neurogenesis. EMBO J. 10: 1135-1147.
16. Hughes, A.E., Newton, V.E., Liu, X.Z. and Read, A.P. (1994) A gene for Waardenburg syndrome type 2 maps close to the human homologue of the mouse microphthalmia gene at chromosomal location 3p12p14.1. Nature Genet. 7: 509-512.
17. Puffenberger, E.G., Hosoda, K. and Washington, S.S. (1994) A missence mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 79: 1257-1266.
18. Baldwin, C.T., Hoth, C.F., Macina, R.A. and Milunsky, A. (1995) Mutations in PAX3 that cause Waardenburg syndrome type I: Ten new mutations and review of the literature. Am. J. Med. Genet. 58: 115-122.
19. Lalwani, A.K., Brister, J.R., Fex, J., Grundfast, K.M., Ploplis, B , San Agustin, TB. and Wilcox, E.R. (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 I in two families. Am. J. Hum. Genet. 56: 75-83.
20. Tassabehji M., Newton, V.E., Lice, X., Brady, A., Donnai, D., and Krajewska-Walasek, M. (1995) The mutational spectrum in Waardenburg syndrome. Hum Mol. Genet. 4: 2131-2137.
21. Burn, M., Tromvoukis, Y., Bopp, D., Frigerio, G. and Noll, M. (1989) Conservation of the paired domain in metazoans and its structure in three isolated human genes. EMBO J. 8: 1183-90.
22. Tassabehji, M., Newton, V.E., Tumbull, K., Seemanova, E., Kunze, J., Sperling, K., Strachan, T. and Read, A.P. (1994) PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the splotch mouse. Hum. Mol. Genet 3: 1069-1074.
23. Wilcox, E.R., Rivolta, M.N , Ploplis, B., Potteri, S.B. and Fex, J. (1992) The PAX3 gene is mapped to human chromosome 2 together with a highly informative CA dinucleotide repeat. Hum. Mol. Genet. 1: 215
24. Xu, W., Rould, M.A., Jun, S., Desplan, C. and Pabo, C.O. (1995) Crystal structure of a paired doman-DNA complex at 2.5 resolution reveals structural basis for Pax developmental mutations. Cell 80: 639-650.
25. Balling, R., Deutsch, U. and Gruss, P. (1988) undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax-1. Cell 55: 531-535.
26. Wilson, D.S , Guenther, B., Desplan, C. and Kuriyan J. (1995) High resolution crystal structure of a paired (Pax) class cooperative homeodomain dimer on DNA. Cell 82: 709-719.
27. Martin, P., Carriere, C , Dozier, C., Quatannens, B., Mirahel, M.A., Vandenbunder, B., Stehelin, D. and Saule, S. (1992) Characterization of a paired box- and homeobox- containing quail gene (Pax-QNR) expressed in the neuroretina. Oncogene 7, 1721-1728.
28. Macek, M., Vavrova, V., Davis, C.L., Hamosh, A. and Cutting, G.R. (1993) Two F508 homozygote siblings with delayed onset of pancreatic insufficiency carry a second cystic fibrosis transmembrane conductance regulator gene mutation on one allele. [Abstract] Am. J. Hum. Genet. 53: 83.
29. Struewing, J.P., Abeliovich, D., Peretz, T., Avishai, N., Kaback, M M., Collins, F.S. and Brody, L.C. (1995) The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nature Genet. 11: 198-200.
30. Reynolds, J.E., Meyer, J.M., Landa, B., Stevens, C.A., Amos, K.S., Israel, J., Marazita, M.L., Bodurtha, J., Nance, W.E. and Diehl, S.R (1995) Analysis of variability of clinical manifestations in Waardenburg syndrome. Am. J. Med. Genet. 57: 540-547.
31. Waardenburg, P.J., Franceschetti, A. and Klein, D. (1961) Lacrimal apparatus. In: Charles C. Thomas, IV, Genetics and Ophthalmology, pp. 291-300.
32. Hoeve, J.V.D (1916) Abnorme Lange der Tranenrorhrchen mit Ankyloblepharon. Klin. Mbl. Augenkeilk, 56: 232
33. Lavergne, G. (1960) Problemes d'eugenisme poses par une famille atteinte de syndrome de Waardenburg-Klein. Soc belge. Ophtal. 193: 181.
34. Puffenberger, E.G., Kauffman, E.R., Bolk, S., Matise, T.C., Washington, S.S., Augnst, M., Weissenbach, J., Garver, K., Mascari, M., Ladda, R., Slangenhaupt, S.A. and Chakravart, A (1994) Identity by descent and association mapping of a recessive gene for Hirschsprung disease on chromosome 13q22. Hum. Mol. Genet. 3: 1217-1225.
35. Paven, W.J., Mac, S., Cheng, M. and Tilghman, S.M. (1995) Quantitative trait loci that modify the severity of spotting in piebald mice. Genome Res. 5: 29-41.
36. Tripathi, R.K., Droetto, S. and Spritz, R.A. (1992) Many patients with 'tyrosinase positive' ocalocutaneous albinism have tyrosinase gene mutations. Am. J. Hum. Genet. 51: 179.
37. Bell, G.I., Karam, I.H. and Rutter, WJ (1981) Polymorphic DNA region adjacent to the 5′ end of the human insulin gene. Proc. Natl Acad. Sci. USA 78: 5759-5763.
38. Thein, S.L. (1995) The use of synthetic oligonucleotides as specific hybridization probes in the diagnosis of genetic disorders. In: Davies, K.E. ed. Human Genetic Disease Analysis: A practical approach, 2nd ed. Oxford: IRL Press, pp. 21-33.