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...

Descripción completa

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
_version_ 1782151701984182272
author Zafer, Emre
Meck, Jeanne
Gerrad, Liora
Pras, Elon
Frydman, Moshe
Reish, Orit
Avni, Isaac
Pras, Eran
author_facet Zafer, Emre
Meck, Jeanne
Gerrad, Liora
Pras, Elon
Frydman, Moshe
Reish, Orit
Avni, Isaac
Pras, Eran
author_sort Zafer, Emre
collection PubMed
description 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.
format Text
id pubmed-2268860
institution National Center for Biotechnology Information
language English
publishDate 2008
publisher Molecular Vision
record_format MEDLINE/PubMed
spelling pubmed-22688602008-03-20 Autosomal dominant congenital cataract in a Libyan Jewish family: cosegregation with a reciprocal chromosomal translocation [t(3;5)(p22.3; p15.1)] Zafer, Emre Meck, Jeanne Gerrad, Liora Pras, Elon Frydman, Moshe Reish, Orit Avni, Isaac Pras, Eran Mol Vis Research Article 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. Molecular Vision 2008-03-14 /pmc/articles/PMC2268860/ /pubmed/18385787 Text en http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Zafer, Emre
Meck, Jeanne
Gerrad, Liora
Pras, Elon
Frydman, Moshe
Reish, Orit
Avni, Isaac
Pras, Eran
Autosomal dominant congenital cataract in a Libyan Jewish family: cosegregation with a reciprocal chromosomal translocation [t(3;5)(p22.3; p15.1)]
title Autosomal dominant congenital cataract in a Libyan Jewish family: cosegregation with a reciprocal chromosomal translocation [t(3;5)(p22.3; p15.1)]
title_full Autosomal dominant congenital cataract in a Libyan Jewish family: cosegregation with a reciprocal chromosomal translocation [t(3;5)(p22.3; p15.1)]
title_fullStr Autosomal dominant congenital cataract in a Libyan Jewish family: cosegregation with a reciprocal chromosomal translocation [t(3;5)(p22.3; p15.1)]
title_full_unstemmed Autosomal dominant congenital cataract in a Libyan Jewish family: cosegregation with a reciprocal chromosomal translocation [t(3;5)(p22.3; p15.1)]
title_short Autosomal dominant congenital cataract in a Libyan Jewish family: cosegregation with a reciprocal chromosomal translocation [t(3;5)(p22.3; p15.1)]
title_sort autosomal dominant congenital cataract in a libyan jewish family: cosegregation with a reciprocal chromosomal translocation [t(3;5)(p22.3; p15.1)]
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2268860/
https://www.ncbi.nlm.nih.gov/pubmed/18385787
work_keys_str_mv AT zaferemre autosomaldominantcongenitalcataractinalibyanjewishfamilycosegregationwithareciprocalchromosomaltranslocationt35p223p151
AT meckjeanne autosomaldominantcongenitalcataractinalibyanjewishfamilycosegregationwithareciprocalchromosomaltranslocationt35p223p151
AT gerradliora autosomaldominantcongenitalcataractinalibyanjewishfamilycosegregationwithareciprocalchromosomaltranslocationt35p223p151
AT praselon autosomaldominantcongenitalcataractinalibyanjewishfamilycosegregationwithareciprocalchromosomaltranslocationt35p223p151
AT frydmanmoshe autosomaldominantcongenitalcataractinalibyanjewishfamilycosegregationwithareciprocalchromosomaltranslocationt35p223p151
AT reishorit autosomaldominantcongenitalcataractinalibyanjewishfamilycosegregationwithareciprocalchromosomaltranslocationt35p223p151
AT avniisaac autosomaldominantcongenitalcataractinalibyanjewishfamilycosegregationwithareciprocalchromosomaltranslocationt35p223p151
AT praseran autosomaldominantcongenitalcataractinalibyanjewishfamilycosegregationwithareciprocalchromosomaltranslocationt35p223p151

Ejemplares similares