Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa
| العنوان: | Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa |
|---|---|
| المؤلفون: | Ellen A.W. Blokland, Frans P.M. Cremers, Lina Zelinger, Dikla Bandah-Rozenfeld, Dirk J. Lefeber, Tim M. Strom, Karlien L.M. Coene, Francesco Testa, Inbar Erdinest, Caroline C W Klaver, Francesca Simonelli, Anneke I. den Hollander, Krysta Voesenek, L. Ingeborgh van den Born, Anna M. Siemiatkowska, Raheel Qamar, Rob W.J. Collin, Muhammad Imran Khan, Dror Sharon, Sandro Banfi, Eyal Banin |
| المساهمون: | Hematology, Ophthalmology, Bandah Rozenfeld, D, Collin, Rw, Banin, E, Ingeborgh van den Born, L, Coene, Kl, Siemiatkowska, Am, Zelinger, L, Khan, Mi, Lefeber, Dj, Erdinest, I, Testa, Francesco, Simonelli, Francesca, Voesenek, K, Blokland, Ea, Strom, Tm, Klaver, Cc, Qamar, R, Banfi, Sandro, Cremers, Fp, Sharon, D, den Hollander, Ai |
| المصدر: | American Journal of Human Genetics, 87(2), 199-208. Cell Press American Journal of Human Genetics, 87, 2, pp. 199-208 American Journal of Human Genetics, 87, 199-208 |
| بيانات النشر: | Elsevier, 2010. |
| سنة النشر: | 2010 |
| مصطلحات موضوعية: | Adult, Male, Genetics and epigenetic pathways of disease [NCMLS 6], Fundus Oculi, Genetic Linkage, Nonsense mutation, DNA Mutational Analysis, Molecular Sequence Data, Genes, Recessive, Gene mutation, Biology, Interphotoreceptor matrix, Neuroinformatics [DCN 3], medicine.disease_cause, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], Exon, Chromosome Segregation, Retinitis pigmentosa, Chlorocebus aethiops, medicine, Genetics, Missense mutation, Animals, Humans, Genetics(clinical), Amino Acid Sequence, Genetics (clinical), Aged, Mutation, Base Sequence, Homozygote, Chromosome Mapping, Glycostation disorders [IGMD 4], Middle Aged, medicine.disease, Pedigree, COS Cells, Mutation testing, Female, Mutant Proteins, Proteoglycans, Retinitis Pigmentosa, Subcellular Fractions |
| الوصف: | Contains fulltext : 89392.pdf (Publisher’s version ) (Closed access) Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal diseases caused by progressive degeneration of the photoreceptor cells. Using autozygosity mapping, we identified two families, each with three affected siblings sharing large overlapping homozygous regions that harbored the IMPG2 gene on chromosome 3. Sequence analysis of IMPG2 in the two index cases revealed homozygous mutations cosegregating with the disease in the respective families: three affected siblings of Iraqi Jewish ancestry displayed a nonsense mutation, and a Dutch family displayed a 1.8 kb genomic deletion that removes exon 9 and results in the absence of seven amino acids in a conserved SEA domain of the IMPG2 protein. Transient transfection of COS-1 cells showed that a construct expressing the wild-type SEA domain is properly targeted to the plasma membrane, whereas the mutant lacking the seven amino acids appears to be retained in the endoplasmic reticulum. Mutation analysis in ten additional index cases that were of Dutch, Israeli, Italian, and Pakistani origin and had homozygous regions encompassing IMPG2 revealed five additional mutations; four nonsense mutations and one missense mutation affecting a highly conserved phenylalanine residue. Most patients with IMPG2 mutations showed an early-onset form of RP with progressive visual-field loss and deterioration of visual acuity. The patient with the missense mutation, however, was diagnosed with maculopathy. The IMPG2 gene encodes the interphotoreceptor matrix proteoglycan IMPG2, which is a constituent of the interphotoreceptor matrix. Our data therefore show that mutations in a structural component of the interphotoreceptor matrix can cause arRP. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 0002-9297 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3eeb833962b9fd1bf931d4b8d99275e0Test https://europepmc.org/articles/PMC2917719Test/ |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....3eeb833962b9fd1bf931d4b8d99275e0 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 00029297 |
|---|