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

✍ Scribed by Yuji Yokoyama; Kouji Narahara; Kazushiro Tsuji; Shinsuke Ninomiya; Yoshiki Seino

Publisher: Springer
Year: 1992
Tongue: English
Weight: 315 KB
Volume: 90
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00210770

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✦ Synopsis

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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