Waardenburg Syndrome

REFERENCES

• Amiel J, Watkin PM, Tassabehji M, Read AP, Winter RM. Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome). Clinical Dysmorphology 1998; 7: 7.
   Web of Science ®Google Scholar
• Arias S. Genetic heterogeneity in the Waardenburg syndrome. Birth Defects 1971; 7(4): 87–101.
   PubMedGoogle Scholar
• Arias S, Mota M. Apparent non-penetrance for dystopia in Waardenburg syndrome type 1 with some hints on the diagnosis of dystopia canthorum. Journal of Human Genetics 1978; 26: 101–31.
   Google Scholar
• Asher JH, Friedman TB. Mouse and hamster mutants as models for Waardenburg syndrome in humans. Journal of Medical Genetics 1990; 27: 618–26.
   PubMed Web of Science ®Google Scholar
• Asher JH Jr, Sommer A, Morrell R, Friedman TB. Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome. Human Mutation 1996; 7: 30—5.
   PubMed Web of Science ®Google Scholar
• AymeÁ S, Philip N. Possible homozygous Waardenburg syndrome in a fetus with exencephaly. American Journal of Medical Genetics 1995; 59: 263—5.
   PubMed Web of Science ®Google Scholar
• Baldwin CT, Hoth CF, Amos JA, da-Silva EO, Milunsky A. An exonic mutation in the HuP2 paired domain gene causes Waardenburg’s syndrome. Nature 1992; 355: 637—8.
   Google Scholar
• Chang T, Hashimoto K, Bawle EV. Spontaneous contraction of leukodermic patches in Waardenburg syndrome. Journal of Dermatology 1993; 20: 707—11.
   PubMedGoogle Scholar
• Chatkupt S, Chatkupt S, Johnson WG. Waardenburg syndrome and myelomeningocele in a family. Journal of Medical Genetics 1993; 30: 83—4.
   PubMed Web of Science ®Google Scholar
• De Haas EBH, Tan KEWP. Waardenburg’s Syndrome. Documenta Ophthalmologica 1966; 21: 239—282.
   Google Scholar
• Delleman JW, Hageman MJ. Ophthalmological findings in 34 patients with Waardenburg syndrome. Journal of Paediatric Ophthalmology and Strabismus 1978; 15: 341—5.
   PubMed Web of Science ®Google Scholar
• DeSaxe M, Kromberg JGR, Jenkins T. Waardenburg syndrome in South Africa. Part 1: An evaluation of the clinical findings in 11 families. South African Medical Journal 1984; 66: 256—61.
   Google Scholar
• DeStefano AL, Cupples LA, Arnos KS, Asher JH Jr, Baldwin CT, Blanton S, Carey ML, da Silva EO, Friedman TB, Greenberg J, Lalwani AK, Milunsky A, Nance WE, Pandya A, Ramesar RS, Read AP, Tassabehjhi M, Wilcox ER, Farrer LA. Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations. Human Genetics 1998; 102: 499—506.
   PubMed Web of Science ®Google Scholar
• DiGeorge AM, Olmsted RW, Harley RD. Waardenburg’s syndrome. Journal of Pediatrics 1960; 57: 649—69.
   PubMedGoogle Scholar
• Ellis RWB. Heterochromia of irides and hair. Proceedings of the Royal Society of Medicine 1931; 24: 1057—8.
   Google Scholar
• Epstein DJ, Vekemans M, Gros P. Splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3. Cell 1991; 67: 767—74.
   PubMed Web of Science ®Google Scholar
• Farrer LA, Grundfast KM, Amos J, Arnos KS, Asher JH, Beighton P, Diehl SR, et al. 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. American Journal of Human Genetics 1992; 50: 902—13.
   Google Scholar
• Farrer LA, Arnos KS, Asher JH, Baldwin CT, Diehl SR, Friedman TB, Greenberg J, Grundfast K, Hoth C, Lalwani AK, Landa B, Leverton K, Milunsky A, Morell R, Nance WE, Newton V, Ramesar R, Rao VS, Reynolds JE, San Agustin TB, Wilcox ER, Winship I, Read AP. Locus heterogeneity for Waardenburg Syndrome is predictive of clinical subtypes. American Journal of Human Genetics 1994; 55: 728—37.
   PubMed Web of Science ®Google Scholar
• Feingold M, Robinson MJ, Gellis SS. Waardenburg’s syndrome during the first year of life. Journal of Pediatrics 1967; 71: 874—5.
   PubMed Web of Science ®Google Scholar
• Fisch L. Aetiology of congenital deafness and audiometric patterns. Journal of Laryngology and Otology 1955; 69: 479—93.
   PubMedGoogle Scholar
• Fisch L. Deafness as part of a hereditary syndrome. The Journal of Laryngology and Otology 1959; 73: 355—82.
   PubMedGoogle Scholar
• Foy C, Newton VE, Wellesley D, Harris R, Read AP. Assignment of WS1 locus to human 2q37 and possible homology between Waardenburg syndrome and the Splotch mouse. American Journal of Human Genetics 1990; 46: 1017—23.
   PubMed Web of Science ®Google Scholar
• Francois J, Kluyskens P, Matton-van Leuven MT, Manavian D, Rysenaer L. Syndrome de Waardenburg-Klein. Acta Geneticae et Gemellologiae 1965; 14: 353—75.
   PubMed Web of Science ®Google Scholar
• Frazer GR. The causes of profound deafness in childhood. 1976 Baltimore: John Hopkins Press.
   Google Scholar
• Giacoia JP, Klein SW. Waardenburg’s syndrome with bilateral cleft lip. American Journal of Diseases of Children 1969; 117: 344—8.
   PubMedGoogle Scholar
• Goldberg MF. Waardenburg’s syndrome with fundus and other anomalies. Archives of Ophthalmology 1966; 76: 797—810.
   PubMedGoogle Scholar
• Gorlin RJ. Facial clefting and its syndromes. Birth Defects: Original Article Series 1971; 7: 3—49.
   PubMedGoogle Scholar
• Goulding MD, Chalepakis G, Deutsch U, Erselius JR, Gruss P. Pax-3, a novel murine DNA-binding protein expressed during early neurogenesis. EMBO Journal 1991; 10: 1135—47.
   PubMed Web of Science ®Google Scholar
• Hageman M, Delleman J. Heterogeneity in Waardenburg syndrome. American Journal of Medical Genetics 1977; 29: 468—85.
   Google Scholar
• Hageman, Oosterveld. Vestibular findings in 25 patients with Waardenburg’s syndrome. Archives of Otolaryngology 1977; 103: 648—52.
   PubMedGoogle Scholar
• Hansen AC, Ackaouy, Crump EP. Waardenburg’s syndrome: report of a pedigree. Journal of the National Medical Association 1965; 5: 8—12.
   Google Scholar
• Hildesheimer MZ. Auditory and vestibular findings in Waardenburg Type 11 syndrome. Journal of Laryngology and Otology 1989; 103: 1130—3.
   PubMed Web of Science ®Google Scholar
• Hol FA, Hamel BC, Geurds MP, Mullaart RA, Barr FG, Macina RA, Mariman EC. A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome. Journal of Medical Genetics 1995; 32: 52—6.
   PubMed Web of Science ®Google Scholar
• Hoth CF, Milunsky A, Lipsky N, Sheffer R, Clarren SK, Baldwin CT. Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-111) as well as Waardenburg syndrome type 1 (WS-1). American Journal of Human Genetics 1993; 52: 455—62.
   PubMed Web of Science ®Google Scholar
• Hughes A, Newton VE, Liu XZ, Read AP. A gene for Waardenburg syndrome Type 2 maps close to MITF, the human homologue of the mouse microphthalmia gene, at chromosomal location 3p12-p14.1. Nature Genetics 1994; 7: 509—513.
   Google Scholar
• Imesch PO, Bindley CD, Khademian Z, Gangnon R, Albert DM. Melanocytes and iris color: light microscopic findings. Archives of Ophthalmology 1996; 114: 437—42.
   PubMedGoogle Scholar
• Irie K, Ogata H, Mitsudome. CT findings of the temporal bones in Waardenburg’s syndrome. Abstract. No To Hattatsu 1990; 22: 241—6.
   Google Scholar
• Ishikiriyama S, Tonoki H, Shibuya Y, Chin S, Harada N, Abe K, Niikawa N. Waardenburg syndrome type I in a child with de novo inversion (2) (q35q37.3). American Journal of Medical Genetics 1989; 33: 506—7.
   Google Scholar
• Jensen J. Malformations of the inner ear in deaf children. A tomographic and clinical study. Acta Radiologica Supplementum 286. Stockholm 1969, pp. 60.
   Google Scholar
• Klein D. Albinisme partiel(leucisme) accompagneÁ de surdimutiteÁ, d’osteomyodysplasie, de raideurs articulaires congenitales multiples et d’autres malformations congenitales. Arch Julius Klaus Stift Vererbungen-forsch 1947; 22: 336—42.
   PubMedGoogle Scholar
• Klein D. Historical background and evidence for dominant inheritance of the Klein-Waardenburg syndrome (type 111). American Journal of Medical Genetics 1983; 14: 231—9. Konigsmark, BW, Gorlin RJ. Genetic hearing loss and integumentary disease. Genetic and Metabolic Deafness 1976 Philadelphia: Saunders.
   Google Scholar
• Kromberg JGR, Krause A. Waardenburg syndrome and spina bifida. American Journal of Medical Genetics 1993; 45: 536—7.
   PubMed Web of Science ®Google Scholar
• Lalwani AK, Mhatre AN, San Agustin TB, Wilcox ER. Genotype-phenotype correlations in Type 1 Waardenburg syndrome. Laryngoscope 1996; 106: 895—902.
   PubMed Web of Science ®Google Scholar
• Liu XZ, Newton VE, Read AP. Waardenburg syndrome type 2: phenotypic findings and diagnostic criteria. American Journal of Medical Genetics 1995a; 55: 95—100.
   PubMed Web of Science ®Google Scholar
• Liu XZ, Newton VE, Read AP. Hearing loss and pigmentary disturbances in Waardenburg syndrome with reference to WS Type 2. The Journal of Laryngology and Otology 1995b; 109: 96—100.
   PubMed Web of Science ®Google Scholar
• Liu XZ, Newton VE. Distortion products in normal-hearing and low frequency hearing loss carriers of genes for Waardenburg syndrome. Annals of Otology, Rhinology and Laryngology 1997; 106: 220—5.
   PubMed Web of Science ®Google Scholar
• Marcus RE. Vestibular function and additional findings in Waardenburg syndrome. Acta Otolaryngologica 1968; 229: 1—30.
   Google Scholar
• Merchant SN, McKenna MJ, Baldwin CT, Milunsky A, Nadol JB. Otopathology in a case of Type I Waardenburg’s syndrome. Annals of Otology, Rhinology and Laryngology 2001; 110: 875—82.
   PubMed Web of Science ®Google Scholar
• Moase CE, Trasler DG. Splotch locus mouse mutants: model for neural tube defects and Waardenburg syndrome type 1 in humans. Journal of Medical Genetics 1992; 29: 145—51.
   PubMed Web of Science ®Google Scholar
• Moline ML, Sandlin C. Waardenburg syndrome and myelomeningocele. American Journal of Medical Genetics 1993; 47: 126.
   PubMedGoogle Scholar
• Moore KJ. Insight into the microphthalmia gene. Trends in Genetics 1995; 11: 442—8.
   PubMed Web of Science ®Google Scholar
• Mullaney PB, Parsons MA, Weatherhead RG, Karcioglu ZA. Clinical and morphological features of Waardenburg syndrome type 11. Eye 1998; 12: 353—57.
   PubMed Web of Science ®Google Scholar
• Nakashima S, Sando I, Takahashi H, Hashida Y. Temporal bone histopathologic findings of Waardenburg syndrome: a case report. Laryngoscope 1992; 102(5): 563—7.
   PubMed Web of Science ®Google Scholar
• Nemansky J, Hageman MJ. Tomographic findings of the inner ears of 24 patients with Waardenburg’s syndrome. American Journal of Roentgenology and Radium Therapy 1975; 124: 250—5.
   Google Scholar
• Newton VE. Waardenburg syndrome: a comparison of biometric indices used to diagnose lateral displacement of the inner canthi. Scandinavian Audiology 1989; 18: 221—3.
   PubMed Web of Science ®Google Scholar
• Newton VE. Hearing loss and Waardenburg syndrome: implications for genetic counselling. The Journal of Laryngology and Otology 1990; 104: 97—103.
   PubMed Web of Science ®Google Scholar
• Newton VE, Liu X, Read AP. The association of sensorineural hearing loss and pigmentation abnormalities in Waardenburg Syndrome. Journal of Audiological Medicine 1994; 3: 69—77.
   Google Scholar
• Pandya A, Xia-Juan X, Landa BL, Arnos KS, Israel J, Lloyd J, James AL, Diehl SR, Blanton SH, Nance WE. Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background? Human Molecular Genetics 1996; 5(4) 497—502.
   PubMed Web of Science ®Google Scholar
• Pantke OA, Cohen MM. The Waardenburg syndrome. Birth defects 1971; 7: 147—52.
   PubMedGoogle Scholar
• Pirodda A, Bonomi L, Cricchi M, Poxeddu P. Contributo alla conoscenza della sindrome de Waardenburg e Klein. Annals of Otology 1961; 87: 401—26.
   Google Scholar
• Preus M, Linstrom C, Polomeno RC, Milot J. Waardenburg syndrome-penetrance of major signs. American Journal of Medical Genetics 1983; 15: 383–8.
   PubMed Web of Science ®Google Scholar
• Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit, D, Yanagisawa, M, Chakravarti A. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung’s disease. Cell 1994; 79: 1257.
   PubMed Web of Science ®Google Scholar
• Rarey KE, Davis LE. Inner ear anomalies in Waardenburg syndrome associated with Hirschprung’s disease. International Journal of Pediatric Otorhinolaryngology 1984; 8(2): 181–9.
   PubMed Web of Science ®Google Scholar
• Read AP, Newton VE. Waardenburg syndrome. Journal of Medical Genetics 1997; 34(8): 6656–65.
   Web of Science ®Google Scholar
• Reed WB, Stone VM, Boder E, Ziprkowski L. Pigmentary disorders in association with congenital deafness. Archives of Dermatology 1967; 95: 176–186.
   PubMedGoogle Scholar
• Reynolds JE, Meyer JM, Landa B, Stevens CA, Arnos KS, Israel J, Marazita ML, Bodurtha J, Nance WE, Diehl SR. Analysis of variability of clinical manifestations in Waardenburg syndrome. American Journal of Medical Genetics 1995; 57: 540–7.
   PubMed Web of Science ®Google Scholar
• Rugel SJ, Keats EU. Waardenburg’s syndrome in six generations in one family. American Journal of Diseases of Children 1970; 109: 579–83.
   Google Scholar
• Settlemayer JR, Hogan M. Waardenburg’s syndrome: report of a case in a non-Dutch family. New England Journal of Medicine 1961; 264: 500–1.
   Google Scholar
• Shah KN, Dalal SJ, Sheth PN, Joshi NC, Ambani LM. White forelock, pigmentary disorder of the irides and long segment Hirschsprung disease: possible variant of Waardenburg syndrome. Journal of Pediatrics 1981; 99: 432.
   PubMed Web of Science ®Google Scholar
• Silvers WK. The coat colours of mice. 1979 Berlin: Springer.
   Google Scholar
• Simpson JL, Falk CT, Morillo-Cucci G, Allen FH, German J. Analysis for possible linkage between the loci for Waardenburg syndrome and various blood group and serological traits. Humangenetik 1974; 23: 45–50.
   PubMedGoogle Scholar
• Smith SD, Kenyon JB, Kelley PM, Hoover D, Comer B. Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. American Journal of Human Genetics 1997; 61 (suppl.): A347 only.
   Google Scholar
• Steel KP, Barkway C. Another role for melanocytes: their importance for normal stria vascularis development in the mammalian inner ear. Development 1989; 107: 453–63.
   PubMed Web of Science ®Google Scholar
• Steel KP, Smith RJH. Normal hearing in Splotch (Sp/+), the mouse homologue of Waardenburg syndrome Type 1. Nature Genetics 1992; 2: 75–9.
   PubMed Web of Science ®Google Scholar
• Stoller FM. A deafmute with two congenital syndromes. Archives of Otolaryngology 1962; 76: 42–6.
   PubMedGoogle Scholar
• Tachibana M, Perez-Jurado LA, Nakayama A, Hodgkinson CA, Li X, Schneider M, Miki T, et al. Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3. Human Molecular Genetics 1994; 3: 553–7.
   Google Scholar
• Tassabehji M, Read AP, Newton VE, Harris R, Balling R, Gruss P, Strachan T. Waardenburg syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 1992; 355: 635–6.
   PubMed Web of Science ®Google Scholar
• Tassabehji M, Newton VE. Read AP. MITF gene mutations causing Type 2 Waardenburg Syndrome. Nature Genetics 1994; 8: 251–5.
   Google Scholar
• Tassabehji M, Newton VE, Liu XZ, Brady A, Donnai D, Krajewska-Walasek M, Murday V, et al. The Mutational Spectrum in Waardenburg Syndrome. Human Molecular Genetics 1995; 4: 2131–7.
   PubMed Web of Science ®Google Scholar
• Touraine RL, AttieÁ-Bittach T, Manceau E, Korsch E, Sarda P, Pingault V, Encha-Razavi F, Pelet A, Auge J, NivellonChevallier A, Holschneider AM, Munnes M, Doerfler W, Goossens M, Munnich A, Vekemans M, Lyonnet S. Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. American Journal of Human Genetics 2000; 66: 1496–1503.
   PubMed Web of Science ®Google Scholar
• Waardenburg PJ. 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 1951; 3: 195–253.
   PubMed Web of Science ®Google Scholar
• Waardenburg PJ, Franceschetti A, Klein D. Genetics and Ophthalmology. Oxford: Blackwell Scientific Publications Ltd. 1961.
   Google Scholar
• Wildervanck. Doofstomme Kinderen met het Syndroom van Waardenburg-Klein. Nederlandsch Tijdschrft voor Geneeskunde 1957; 101: 1120–1.
   Google Scholar
• Wilkerson CL, Syed NA, Fisher MR, Robinson NL, Wallow IH, Albert DM. Melanocytes and iris color. Light microscopic findings. Archives of Ophthalmology 1996; 114: 437–42.
   PubMedGoogle Scholar
• Zlotogora J, Lerer I, Bar-David S, Ergaz Z, Abielovich D. Homozygosity for Waardenburg syndrome. American Journal of Human Genetics 1995; 56: 1173–78.
   PubMed Web of Science ®Google Scholar