Novel mutation in PAX3 gene in Waardenburg syndrome accompanied by unilateral macular degeneration

Eye

Volumn 23, Issue 7, 2009, Pages 1619-1621

  Kozawa, M ^a   Kondo, H ^a   Tahira, T ^b   Hayashi, K ^b   Uchio, E ^a  

^a FUKUOKA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b KYUSHU UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADULT; CASE REPORT; CODON; FEMALE; GENE; GENE MUTATION; HEARING IMPAIRMENT; HUMAN; LETTER; MYOPIA; OPTICAL COHERENCE TOMOGRAPHY; PAX3 GENE; RETINA MACULA DEGENERATION; RETINA PIGMENT DEGENERATION; SUBRETINAL NEOVASCULARIZATION; VISUAL ACUITY; VISUAL DISORDER; WAARDENBURG SYNDROME;

DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MACULAR DEGENERATION; MIDDLE AGED; MUTATION; PAIRED BOX TRANSCRIPTION FACTORS; TOMOGRAPHY, OPTICAL COHERENCE; WAARDENBURG'S SYNDROME;

EID: 67749095968     PISSN: 0950222X     EISSN: 14765454     Source Type: Journal    
DOI: 10.1038/eye.2008.256     Document Type: Letter

References (5)

1. 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. Am J Hum Genet 1951; 3: 195-253.
2. Tassabehji M, Read AP, Newton VE, Harris R, alling R, Gruss P et al. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 1992; 355: 635-636.
3. OhnoN, KiyosawaM, Mori H, Wang WF, Takase H, Mochizuki M. Clinical findings in Japanese patients with Waardenburg syndrome type 2. Jpn J Ophthalmol 2003; 47: 77-84. (Pubitemid 36173875)
4. Watanabe A, Takeda K, Ploplis B, Tachibana M. Epistatic relationship between Waardenburg syndrome genes MITF and PAX3. Nat Genet 1998; 18: 283-286. (Pubitemid 28117270)
5. Fortin AS, Underhill DA, Gris P. Reciprocal effect of Waardenburg syndrome mutations on DNA binding by the Pax-3 paired domain and homeodomain. Hum Mol Genet 1997; 6: 1781-1790.