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A gene for Waardenburg Syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12–p14.1

Nature Genetics volume 7, pages 509–512 (1994)Cite this article

Abstract

Waardenburg syndrome (WS), an autosomal dominant syndrome of hearing loss and pigmentary disturbances, comprises at least two separate conditions. WS type 1 is normally caused by mutations in PAX3 located at chromosome 2q35 and is distinguished clinically by minor facial malformations. We have now located a gene for WS type 2. Two families show linkage to a group of microsatellite markers located on chromosome 3p12–p14.1. D3S1261 gave a maximum lod score of 6.5 at zero recombination in one large Type 2 family. In a second, smaller family the adjacent marker D3S1210 gave a lod of 2.05 at zero recombination. Interestingly, the human homologue (MITF) of the mouse microphthalmia gene, a good candidate at the phenotypic level, has recently been mapped to 3p12.3–p14.4.

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Author notes

  1. Anne E. Hughes: Correspondence should be addressed to A.E.H.

Authors and Affiliations

  1. Department of Medical Genetics, Belfast City Hospital, Belfast, BT9 7AB, UK

    Anne E. Hughes

  2. Centre for Audiology, University of Manchester, Manchester, M13 9PL, UK

    Valerie E. Newton & Xue Z. Liu

  3. Department of Medical Genetics, St Mary's Hospital, Manchester, M13 9PL, UK

    Xue Z. Liu & Andrew P. Read

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  1. Anne E. Hughes
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  2. Valerie E. Newton
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  3. Xue Z. Liu
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  4. Andrew P. Read
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Hughes, A., Newton, V., Liu, X. et al. A gene for Waardenburg Syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12–p14.1. Nat Genet 7, 509–512 (1994). https://doi.org/10.1038/ng0894-509

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