Mutations in PAX3 that cause Waardenburg syndrome type I: Ten new mutations and review of the literature

American Journal of Medical Genetics

Volumn 58, Issue 2, 1995, Pages 115-122

  Baldwin, C T ^a   Hoth, C F ^a   Macina, R A ^a   Milunsky, A ^a  

^a BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

deafness; homeodomain; paired domain; PAX3; transcription factor; Waardenburg syndrome

Indexed keywords

DNA;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; GENE DELETION; GENE MUTATION; GENETIC LINKAGE; HUMAN; HUMAN CELL; HUMAN TISSUE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; WAARDENBURG SYNDROME;

EID: 0029028059     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1320580205     Document Type: Article

References (47)

1. Asher JH Jr, Friedman TB “ 1990 ”: Mouse and hamster mutants as models for Waardenburg syndromes in humans. J Med Genet 27: 618–626.
2. Baldwin CT, Hoth CF, Amos JA, da‐Silva EO, Milunsky A “ 1992 ”: An exonic mutation in the HuP2 paired‐domain gene causes Waardenburg's syndrome. Nature 355: 637–638.
3. Baldwin C, Lipsky N, Hoth C, Cohen T, Mamuya W, Milunsky A “ 1994 ”: Mutations in PAX3 associated with Waardenburg syndrome type I. Hum Mutat 3: 205–211.
4. Barr FG, Galili N, Holick J, Biegel JA, Rovera G, Emanuel BS “ 1993 ”: Rearrangement of the PAX3 paired box gene in the paediatric solid tumor alveolar rhabdomyosarcoma. Nat Genet 3: 113–117.
5. Begleiter ML, Harris DJ “ 1992 ”: Waardenburg syndrome and meningocele. Am J Med Genet 44: 541.
6. Beighton P, Ramesar R, Winship I, Viljoen D, Greenberg J, Young K, Curtis D, Sellars S “ 1991 ”: Hearing impairment and pigmentary disturbance. Ann NY Acad Sci 630: 152–166.
7. Bober E, Franz T, Arnold HH, Gruss P, Tremblay P “ 1994 ”: Pax‐3 is required for the development of limb muscles: a possible role for the migration of dermomyotomal muscle progenitor cells. Development 120: 603–612.
8. Burri M, Tromvoukis Y, Bopp D, Frigerio G, Noll M “ 1989 ”: Conservation of the paired‐domain in metazoans and its structure in three isolated human genes. EMBO J 8: 1183–1190.
9. Butt J, Greenberg J, Winship I, Sellars S, Beighton P, Ramesar R “ 1994 ”: A splice junction mutation in PAX3 causes Waardenburg syndrome in a South African family. Hum Mol Genet 3: 197–198.
10. Carezani‐Gavin M, Clarren S, Steege T “ 1992 ”: Waardenburg syndrome associated with meningomyelocele. Am J Med Genet 42: 135–136.
11. Chalepakis G, Stoykova A, Wijnholds J, Tremblay P, Gruss P “ 1993 ”: Pax: gene regulators in the developing nervous system. J Neurobiol 24: 1367–1384.
12. Chatkupt S, Chatkupt S, Johnson WG “ 1993 ”: Waardenburg syndrome and myelomeningocele in a family. J Med Genet 30: 83–84.
13. Da‐Silva EO “ 1991 ”: Waardenburg I syndrome: a clinical and genetic study of two large Brazilian kindreds, and literature review. Am J Med Genet 40: 65–67.
14. Epstein DJ, Malo D, Vekemans M, Gros P “ 1991a ”: Molecular characterization of a deletion encompassing the splotch mutation on mouse chromosome 1. Genomics 10: 89–93.
15. Epstein DJ, Vekemans M, Gros P “ 1991b ”: Splotch “Sp2H”, a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax‐3. Cell 67: 767–774.
16. Epstein D, Vogan K, Trasler D, Gros P “ 1993 ”: A mutation within intron 3 of the Pax‐3 gene produces aberrantly spliced mRNA transcripts in the splotch “Sp” mouse mutant. Proc Natl Acad Sci USA 90: 532–536.
17. Farrer L, Grundfast K, Amos J, Arnos K, Asher J, Beighton P, Diehl S, Fex J, Foy C, Friedman TB, Greenberg J, Hoth C, Marazita M, Milunsky A, Morell R, Nance W, Newton V, Ramesar R, San Augustin TB, Skare J, Stevens CA, Wagner RG, Wilcox ER, Winship W, Read AP “ 1992 ”: Waardenburg syndrome “WS” type I is caused by defects and multiple loci, one of which is near ALPP on chromosome 2. First report of the WS Consortium. Am J Hum Genet 50: 902–913.
18. Farrer L, Arnos K, Asher J, Baldwin C, Diehl S, Friedman T, Greenberg J, Grundfast K, Hoth C, Lalwani A, Landa B, Leverton K, Milunsky A, Morell R, Nance W, Newton V, Ramesar R, Rao V, Reynolds J, San Augustin T, Wilcox ER, Winship I, Read A “ 1994 ”: Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes. Am J Hum Genet 55: 728–737.
19. Franz T “ 1993 ”: The splotch “Sp1H” and splotch‐delayed “Spd” alleles: differential phenotypic effects on neural crest and limb musculature. Anat Embryol “Berl” 187: 371–377.
20. Franz T, Kothary R, Surani M, Halata Z, Grim M “ 1993 ”: The splotch mutation interferes with muscle development in limbs. Anat Embryol “Berl” 187: 153–160.
21. Galili N, Davis RJ, Fredericks WJ, Mukhopadhyay S, Rauscher FJ, Emanuel BS, Rovera G, Barr FG “ 1993 ”: Fusion of a fork head domain gene to PAX3 in the solid tumor alveolar rhabdomyosarcoma. Nat Genet 5: 230–235.
22. Ganguly A, Rock M, Prockop D “ 1993 ”: Conformation‐sensitive gel electrophoresis for rapid detection of single‐base differences in double‐stranded PCR products and DNA fragments: evidence for solvent‐induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 90: 10325–10329.
23. Goulding M, Chalepakis G, Deutsch U, Erselius J, Gruss P “ 1991 ”: Pax‐3, a novel murine DNA binding protein expressed during early neurogenesis. EMBO J 10: 1135–1147.
24. Goulding M, Sterrer S, Balling R, Nadeau J, Moore K, Brown S, Steel K, Gruss P “ 1993 ”: Analysis of the Pax‐3 gene in the mouse mutant splotch. Genomics 17: 355–363.
25. Hageman M, Delleman J “ 1977 ”: Heterogeneity in Waardenburg syndrome. Am J Hum Genet 29: 468–485.
26. Higashi K, Matsuki C, Sarashina N “ 1992 ”: Aplasia of posterior semicircular canal in Waardenburg syndrome type II. J Otolaryngol 21: 262–264.
27. Hoth C, Milunsky A, Lipsky N, Sheffer R, Clarren S, Baldwin C “ 1993 ”: Mutations in the paired‐domain of human PAX3 cause Waardenburg syndrome type I as well as Klein‐Warrdenburg syndrome “WS‐III”. Am J Hum Genet 52: 455–462.
28. Hughes A, Newton V, Liu X, Read A “ 1994 ”: A gene for Waardenburg syndrome type 2 maps close to MITF, the human homolog of the mouse microphthalmia gene at chromosomal location 3p12–14.1. Nat Genet 7: 509–512.
29. Ishikiriyama S, Tonoki H, Shibuya Y, Chin S, Harada N, Abe K, Niikawa N “ 1989 ”: Waardenburg syndrome type I in a child with de novo inversion “2” “q35q37.3”. Am J Med Genet 33: 505–507.
30. Kapur S, Karam S “ 1991 ”: Germ‐line mosaicism in Waardenburg syndrome. Clin Genet 39: 194–198.
31. Macina R, Barr F, Galili N, Reithman H “ 1995 ”: Genomic organization of the human PAX3 gene: DNA sequence analysis of the region disrupted in aveolar rhabdomyosarcoma. Genomics 26: 1–8.
32. Moline M, Sandlin C “ 1993 ”: Waardenburg syndrome and meningomyelocele. Am J Med Genet 47: 126.
33. Morell R, Friedman T, Moeljopawiro S, Hartono, Soewito, Asher J “ 1992 ”: A frameshift mutation in the HuP2 paired‐domain of the probable human homolog of murine Pax3 is responsible for Waardenburg syndrome type 1 in an Indonesian family. Hum Mol Genet 1: 243–247.
34. Morell R, Friedman T, Asher J “ 1993 ”: A plus‐one frameshift mutation in PAX3 alters the entire deduced amino acid sequence of the paired box in a Waardenburg syndrome type I “WS1” family. Hum Mol Genet 2: 1487–1488.
35. Nakashima S, Sando I, Takahashi H, Hashida Y “ 1992 ”: Temporal bone histopathologic findings of Waardenburg's syndrome: a case report. Laryngoscope 102: 563–567.
36. Pasteris N, Trask B, Sheldon S, Gorski J “ 1993 ”: Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35. Hum Mol Genet 2: 953–959.
37. Steel K, Smith R “ 1992 ”: Normal hearing in Splotch “Sp/+”, the mouse homology of human Waardenburg syndrome type I. Nat Genet 2: 75–79.
38. Stoykova A, Gruss P “ 1994 ”: Roles of Pax genes in developing and adult brain as suggested by expression patterns. J Neurosci 14: 1395–1412.
39. Tassabehji M, Read AP, Newton VE, Harris R, Balling R, Gruss P, Strachan T “ 1992 ”: Waardenburg's syndrome patients have mutations in the human homologue of the Pax‐3 paired box gene. Nature 355: 635–636.
40. Tassabehji M, Read AP, Newton VE, Patton M, Gruss P, Harris R, Strachan T “ 1993 ”: Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. Nat Genet 3: 26–30.
41. Tassabehji M, Newton VE, Leverton K, Turnbull K, Seemanova E, Kunze J, Sperling K, Strachan T, Read A “ 1994a ”: PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the splotch mouse. Hum Mol Genet 3: 1069–1074.
42. Tassabehji M, Newton V, Read A “ 1994b ”: Waardenburg syndrome type 2 caused by mutations in the human microphthalmia “MITF” gene. Nat Genet 8: 251–255.
43. Vogan K, Epstein D, Trasler D, Gros P “ 1993 ”: The splotch‐delayed “Spd” mouse mutant carries a point mutation within the paired box of the Pax‐3 gene. Genomics 17: 364–369.
44. Waardenburg P “ 1951 ”: A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with congenital deafness. Am J Hum Genet 3: 195–253.
45. Walther C, Guenet J, Simon D, Deutsch U, Jostes B, Goulding M, Plachov D, Balling R, Gruss P “ 1991 ”: Pax: a murine multigene familyof paired‐box‐containing genes. Genomics 11: 424–434.
46. Winship I, Beighton P “ 1992 ”: Phenotypic discriminants in the Waardenburg syndrome. Clin Genet 41: 181–188.
47. Wu B, Milunsky A, Wyandt H, Hoth C, Baldwin C, Skare J “ 1993 ”: In situ hybridization applied to Waardenburg syndrome. Cytogenet Cell Genet 63: 29–32.