CONGENITAL TOTAL CATARACT POSSIBLY RECESSIVE
نویسندگان
چکیده
منابع مشابه
Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.
PURPOSE Some 30% of cases of congenital cataract are genetic in origin, usually transmitted as an autosomal dominant trait. The molecular defects underlying some of these autosomal dominant cases have been identified and were demonstrated to be mostly mutations in crystallin genes. The autosomal recessive form of the disease is less frequent. To date, only four genes and three loci have been as...
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PURPOSE To identify mutations in the LIM2 gene in families with hereditary congenital or juvenile-onset cataract. METHODS Forty families (total of 100 affected and 84 unaffected individuals) were recruited for the study. Probands were screened for pathogenic alterations in 10 different candidate genes including the lens intrinsic membrane protein-2 (LIM2) gene. Exons and flanking regions were...
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A family with an autosomal dominant form of congenital cataract, total nuclear cataract, was examined for genetic linkage between the cataract locus and 30 marker loci. Close linkage was excluded for all of the 21 informative loci. There was no significant evidence for linkage of the cataract locus with any of the marker loci.
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We discovered a new cataract mutation, kfrs4, in the Kyoto Fancy Rat Stock (KFRS) background. Within 1 month of birth, all kfrs4/kfrs4 homozygotes developed cataracts, with severe opacity in the nuclei of the lens. In contrast, no opacity was observed in the kfrs4/+ heterozygotes. We continued to observe these rats until they reached 1 year of age and found that cataractogenesis did not occur i...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 1957
ISSN: 0007-1161
DOI: 10.1136/bjo.41.7.444