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Autosomal dominant congenital cataract and microphthalmia associated with a familial t(2;16) translocation

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Summary

We describe a family in which autosomal dominant congenital cataract and microphthalmia were segregating together with a reciprocal translocation t(2; 16) (p22.3;p13.3) through three generations. This family included four individuals with balanced translocations, three with partial trisomy 2p derived from this translocation, and two with a normal karyotype. All of the subjects with balanced and unbalanced translocations had congenital cataract and microphthalmia, whereas the two individuals with normal karyotypes did not show any ocular anomalies. These observations suggest that the altered function of a gene that lies on the 16p13.3 band and that has an important role in the development of the eye is responsible for this disorder.

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Authors and Affiliations

  1. Department of Pediatrics, Okayama University Medical School, 2-5-1 Shikata-cho, 700, Okayama, Japan

    Yuji Yokoyama, Kouji Narahara, Kazushiro Tsuji, Shinsuke Ninomiya & Yoshiki Seino

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  1. Yuji Yokoyama
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  2. Kouji Narahara
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  3. Kazushiro Tsuji
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  4. Shinsuke Ninomiya
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  5. Yoshiki Seino
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Yokoyama, Y., Narahara, K., Tsuji, K. et al. Autosomal dominant congenital cataract and microphthalmia associated with a familial t(2;16) translocation. Hum Genet 90, 177–178 (1992). https://doi.org/10.1007/BF00210770

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  • DOI: https://doi.org/10.1007/BF00210770

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