Autosomal dominant congenital cataract in a Libyan Jewish family: Cosegregation with a reciprocal chromosomal translocation [t(3;5)(p22.3; p15.1)]

Emre Zafer, Jeanne Meck, Liora Gerrad, Elon Pras*, Moshe Frydman, Orit Reish, Isaac Avni, Eran Pras*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Purpose: To describe a Jewish family of Libyan ancestry in which autosomal dominant congenital cataract segregates with an apparently balanced reciprocal chromosomal translocation. Methods: Detailed family history and clinical data were recorded. Cytogenetic studies were performed on 13 family members. Results: Embryonal cataracts cosegregated through three generations with a balanced chromosomal translocation [t(3;5) (p22.3; p15.1)] while the unbalanced translocation product, 46,XY,-5,+der(5)t(3:5)(p22:p15.1), had multiple congenital anomalies without cataracts. Conclusions: These observations suggest that an altered function of a gene at one of the translocation breakpoints on chromosome 3p22.3 or 5p15.1 is causally related to cataract development.

Original languageEnglish
Pages (from-to)530-532
Number of pages3
JournalMolecular Vision
Volume14
StatePublished - 14 Mar 2008

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