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

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 membe...

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Detalles Bibliográficos
Autores principales: Zafer, Emre, Meck, Jeanne, Gerrad, Liora, Pras, Elon, Frydman, Moshe, Reish, Orit, Avni, Isaac, Pras, Eran
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2268860/
https://www.ncbi.nlm.nih.gov/pubmed/18385787
Descripción
Sumario: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.

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