Molecular vision · 2008
Autosomal dominant congenital cataract in a Libyan Jewish family: cosegregation with a reciprocal chromosomal translocation [t(3;5)(p22.3; p15.1)].
СтатьяНазвание и аннотация: Перевод в очереди
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Zafer Emre, Meck Jeanne, Gerrad Liora, Pras Elon, Frydman Moshe, Reish Orit, Avni Isaac, Pras Eran
Аннотация
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.
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.