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

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

作者信息

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

机构信息

Department of Obstetrics and Gynecology, Georgetown University, Washington, DC, USA.

出版信息

Mol Vis. 2008 Mar 14;14:530-2.

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2268860/

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.

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/860f/2268860/d8c0d1ba1433/mv-v14-530-f1.jpg

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2

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Dev Ophthalmol. 2003;37:67-82. doi: 10.1159/000072039.

3

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Br J Ophthalmol. 2003 May;87(5):646-8. doi: 10.1136/bjo.87.5.646-a.

4

Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.

Hum Mol Genet. 2002 Jan 1;11(1):33-42. doi: 10.1093/hmg/11.1.33.

5

Glutathione peroxidase-1 deficiency leads to increased nuclear light scattering, membrane damage, and cataract formation in gene-knockout mice.

Invest Ophthalmol Vis Sci. 2001 Dec;42(13):3247-55.

6

A gene causing autosomal recessive cataract maps to the short arm of chromosome 3.

Isr Med Assoc J. 2001 Aug;3(8):559-62.

7

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8

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9

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