Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (35)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Morell, R.
Right arrow Articles by Asher, J. H.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Morell, R.
Right arrow Articles by Asher, J. H., Jr
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Molecular Genetics, Vol 6, 659-664, Copyright © 1997 by Oxford University Press

ARTICLES

Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA)

R Morell, RA Spritz, L Ho, J Pierpont, W Guo, TB Friedman and JH Asher Jr
Department of Zoology, Michigan State University, East Lansing, USA. morellr@helix.nih.gov

Waardenburg syndrome (WS) is a clinically and genetically heterogeneous disease accounting for >2% of the congenitally deaf population. It is characterized by deafness in association with pigmentary anomalies and various defects of neural crest-derived tissues. At least four types are recognized (WS1, WS2, WS3 and WS4) on the basis of clinical and genetic criteria. Two previously described families seemed to delineate a new subtype characterized by WS2 in conjunction with ocular albinism (OA). Since mutations in the MITF gene are responsible for some instances of WS2, we screened for mutations in one of the WS2-OA families and discovered a 1 bp deletion in exon 8 of MITF. OA previously has been associated with compound heterozygosity for a mutant TYR allele and the TYR(R402Q) allele, a functionally significant polymorphism that is associated with moderately reduced tyrosinase catalytic activity. In this family, all of the individuals with the OA phenotype are either homozygous or heterozygous for TYR(R402Q), and heterozyous for the 1 bp deletion in MITF This suggests that the WS2-OA phenotype may result from digenic interaction between a gene for a transcription factor (MITF) and a gene that it regulates (TYR).
Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 IOVSHome page
S. M. Hutton and R. A. Spritz
A Comprehensive Genetic Study of Autosomal Recessive Ocular Albinism in Caucasian Patients
Invest. Ophthalmol. Vis. Sci., March 1, 2008; 49(3): 868 - 872.
[Abstract] [Full Text] [PDF]

Home page
 CJASNHome page
N. He, A. Zahirieh, Y. Mei, B. Lee, S. Senthilnathan, B. Wong, B. Mucha, F. Hildebrandt, D. E. Cole, D. Cattran, et al.
Recessive NPHS2 (Podocin) Mutations Are Rare in Adult-Onset Idiopathic Focal Segmental Glomerulosclerosis
Clin. J. Am. Soc. Nephrol., January 1, 2007; 2(1): 31 - 37.
[Abstract] [Full Text] [PDF]

Home page
 Br J OphthalmolHome page
M M van Genderen, F C C Riemslag, J Schuil, F P Hoeben, J S Stilma, and F M Meire
Chiasmal misrouting and foveal hypoplasia without albinism
Br J Ophthalmol, September 1, 2006; 90(9): 1098 - 1102.
[Abstract] [Full Text] [PDF]

Home page
 GeneticsHome page
J. Graw, W. Pretsch, and J. Loster
Mutation in Intron 6 of the Hamster Mitf Gene Leads to Skipping of the Subsequent Exon and Creates a Novel Animal Model for the Human Waardenburg Syndrome Type II
Genetics, July 1, 2003; 164(3): 1035 - 1041.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
A. Slavotinek and L. G. Biesecker
Genetic modifiers in human development and malformation syndromes, including chaperone proteins
Hum. Mol. Genet., April 2, 2003; 12(90001): R45 - 50.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
V. Westphal, S. Kjaergaard, E. Schollen, K. Martens, S. Grunewald, M. Schwartz, G. Matthijs, and H. H. Freeze
A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency
Hum. Mol. Genet., March 1, 2002; 11(5): 599 - 604.
[Abstract] [Full Text] [PDF]

Home page
 Br J OphthalmolHome page
G C M BLACK and D DONNAI
Genetic testing---swings and roundabouts: a view from the United Kingdom
Br J Ophthalmol, December 1, 2001; 85(12): 1402 - 1404.
[Full Text] [PDF]

Home page
 ScienceHome page
N. Katsanis, S. J. Ansley, J. L. Badano, E. R. Eichers, R. A. Lewis, B. E. Hoskins, P. J. Scambler, W. S. Davidson, P. L. Beales, and J. R. Lupski
Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder
Science, September 21, 2001; 293(5538): 2256 - 2259.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
W. Reardon, A. Smith, J. W Honour, P. Hindmarsh, D. Das, G. Rumsby, I. Nelson, S. Malcolm, L. Adès, D. Sillence, et al.
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
J. Med. Genet., January 1, 2000; 37(1): 26 - 32.
[Abstract] [Full Text]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.