A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens
Abstract Background Autosomal recessive forms of retinitis punctata albescens (RPA) have been described. RPA is characterized by progressive retinal degeneration due to alteration in visual cycle and consequent deposit of photopigments in retinal pigment epithelium. Five loci have been linked to RPA...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2017-08-01
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| Series: | Human Genomics |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s40246-017-0114-6 |
| _version_ | 1811213358333952000 |
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| author | Concetta Scimone Luigi Donato Teresa Esposito Carmela Rinaldi Rosalia D’Angelo Antonina Sidoti |
| author_facet | Concetta Scimone Luigi Donato Teresa Esposito Carmela Rinaldi Rosalia D’Angelo Antonina Sidoti |
| author_sort | Concetta Scimone |
| collection | DOAJ |
| description | Abstract Background Autosomal recessive forms of retinitis punctata albescens (RPA) have been described. RPA is characterized by progressive retinal degeneration due to alteration in visual cycle and consequent deposit of photopigments in retinal pigment epithelium. Five loci have been linked to RPA onset. Among these, the retinaldehyde-binding protein 1 gene, RLBP1, is the most frequently involved and several founder mutations were reported. We report results of a genetic molecular investigation performed on a large Sicilian family in which appears a young woman with RPA. Results The proband is in homozygous condition for a novel RLBP1 single-pair deletion, and her healthy parents, both heterozygous, are not consanguineous. Thenovelc.398delC (p.P133Qfs*258) involves the exon 6 and leads to a premature stop codon, resulting in a truncated protein entirely missing of CRAL-TRIO lipid-binding domain. Pedigree analysis showed other non-consanguineous relatives heterozygous for the same mutation in the family. Extension of mutation research in the native town of the proband revealed its presence also in healthy subjects, in a heterozygous condition. Conclusions A novel RLBP1 truncating mutation was detected in a young girl affected by RPA. Although her parents are not consanguineous, the mutation was observed in a homozygous condition. Being them native of the same small Sicilian town of Fiumedinisi, the hypothesis of a geographical area-related mutation was assessed and confirmed. |
| first_indexed | 2024-04-12T05:45:29Z |
| format | Article |
| id | doaj.art-84758c2824f04782b8978d9dcb0681de |
| institution | Directory Open Access Journal |
| issn | 1479-7364 |
| language | English |
| last_indexed | 2024-04-12T05:45:29Z |
| publishDate | 2017-08-01 |
| publisher | BMC |
| record_format | Article |
| series | Human Genomics |
| spelling | doaj.art-84758c2824f04782b8978d9dcb0681de2022-12-22T03:45:29ZengBMCHuman Genomics1479-73642017-08-011111610.1186/s40246-017-0114-6A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescensConcetta Scimone0Luigi Donato1Teresa Esposito2Carmela Rinaldi3Rosalia D’Angelo4Antonina Sidoti5Department of Biomedical and Dental Sciences and Morphofunctional Imaging, Division of Molecular Genetics and Preventive Medicine, University of MessinaDepartment of Biomedical and Dental Sciences and Morphofunctional Imaging, Division of Molecular Genetics and Preventive Medicine, University of MessinaDepartment of Experimental Medicine, Division of Human Physiology and Integrate Biological Functions “F. Bottazzi”, University of Campania Luigi VanvitelliDepartment of Biomedical and Dental Sciences and Morphofunctional Imaging, Division of Molecular Genetics and Preventive Medicine, University of MessinaDepartment of Biomedical and Dental Sciences and Morphofunctional Imaging, Division of Molecular Genetics and Preventive Medicine, University of MessinaDepartment of Biomedical and Dental Sciences and Morphofunctional Imaging, Division of Molecular Genetics and Preventive Medicine, University of MessinaAbstract Background Autosomal recessive forms of retinitis punctata albescens (RPA) have been described. RPA is characterized by progressive retinal degeneration due to alteration in visual cycle and consequent deposit of photopigments in retinal pigment epithelium. Five loci have been linked to RPA onset. Among these, the retinaldehyde-binding protein 1 gene, RLBP1, is the most frequently involved and several founder mutations were reported. We report results of a genetic molecular investigation performed on a large Sicilian family in which appears a young woman with RPA. Results The proband is in homozygous condition for a novel RLBP1 single-pair deletion, and her healthy parents, both heterozygous, are not consanguineous. Thenovelc.398delC (p.P133Qfs*258) involves the exon 6 and leads to a premature stop codon, resulting in a truncated protein entirely missing of CRAL-TRIO lipid-binding domain. Pedigree analysis showed other non-consanguineous relatives heterozygous for the same mutation in the family. Extension of mutation research in the native town of the proband revealed its presence also in healthy subjects, in a heterozygous condition. Conclusions A novel RLBP1 truncating mutation was detected in a young girl affected by RPA. Although her parents are not consanguineous, the mutation was observed in a homozygous condition. Being them native of the same small Sicilian town of Fiumedinisi, the hypothesis of a geographical area-related mutation was assessed and confirmed.http://link.springer.com/article/10.1186/s40246-017-0114-6Retinitis punctata albescensRLBP1Frameshift mutationPopulation studyGeographical-area related mutationRP mutation spectrum |
| spellingShingle | Concetta Scimone Luigi Donato Teresa Esposito Carmela Rinaldi Rosalia D’Angelo Antonina Sidoti A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens Human Genomics Retinitis punctata albescens RLBP1 Frameshift mutation Population study Geographical-area related mutation RP mutation spectrum |
| title | A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens |
| title_full | A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens |
| title_fullStr | A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens |
| title_full_unstemmed | A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens |
| title_short | A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens |
| title_sort | novel rlbp1 gene geographical area related mutation present in a young patient with retinitis punctata albescens |
| topic | Retinitis punctata albescens RLBP1 Frameshift mutation Population study Geographical-area related mutation RP mutation spectrum |
| url | http://link.springer.com/article/10.1186/s40246-017-0114-6 |
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