LTBP2gene analysis in theGLC3C-linked family and 94CYP1B1-negative cases with primary congenital glaucoma
| العنوان: | LTBP2gene analysis in theGLC3C-linked family and 94CYP1B1-negative cases with primary congenital glaucoma |
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| المؤلفون: | Brian W Fleck, Mansoor Sarfarazi, Roshanak Sharafieh, Peng T. Khaw, Anne H. Child |
| المصدر: | Ophthalmic Genetics. 34:14-20 |
| بيانات النشر: | Informa UK Limited, 2012. |
| سنة النشر: | 2012 |
| مصطلحات موضوعية: | Male, genetic structures, CYP1B1, DNA Mutational Analysis, Locus (genetics), macromolecular substances, Biology, Bioinformatics, Polymerase Chain Reaction, Consanguinity, Megalocornea, Exon, medicine, Humans, Missense mutation, Ectopia lentis, Intraocular Pressure, Genetics (clinical), Genetics, fungi, Hydrophthalmos, Infant, Newborn, Marfanoid, Infant, Sequence Analysis, DNA, medicine.disease, Pedigree, body regions, Ophthalmology, Buphthalmos, Latent TGF-beta Binding Proteins, Child, Preschool, Cytochrome P-450 CYP1B1, Mutation, Pediatrics, Perinatology and Child Health, Female, Aryl Hydrocarbon Hydroxylases, Genome-Wide Association Study |
| الوصف: | Primary congenital glaucoma (isolated trabeculodysgensis, PCG) generally presents between birth and 3 years of age. Recently, mutations in Latent Transforming Growth Factor (TGF)-beta Binding Protein 2 (LTBP2) have been reported in several families that were diagnosed with PCG, who actually had a more complex ocular phenotype with ectopia lentis and Marfanoid features. We screened this gene for mutations in the original Turkish GLC3C-linked PCG family and in a group of CYP1B1-negative British PCG cases and their matched normal control subjects.The 36-coding exons of the LTBP2 gene were sequenced in 94 familial or sporadic CYP1B1-negative PCG cases and 96 matched normal control subjects.No disease-causing mutations were identified in the original GLC3C-linked family. Screening of LTBP2 in 94 PCG and 96 control subjects identified three novel synonymous variations (L429L, P680P, S1031S) in 12 PCG and seven control subjects. A novel heterozygous missense mutation (R538W) was also identified in 1 of 90 PCG cases that is unlikely to be disease-causative.LTBP2 mutations were not found in the Turkish GLC3C-linked PCG family or in 94 British CYP1B1-negative PCG cases. Our data suggest that LTBP2 mutations are not a significant cause for isolated trabeculodysgenesis. |
| تدمد: | 1744-5094 1381-6810 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb0eaefb4d236797239b1100535bf7a1Test https://doi.org/10.3109/13816810.2012.716486Test |
| رقم الانضمام: | edsair.doi.dedup.....fb0eaefb4d236797239b1100535bf7a1 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 17445094 13816810 |
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