A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens
In: American Journal of Ophthalmology, Jg. 138 (2004-07-01), Heft 1
Online
academicJournal
- 171 - 173
PurposeTo describe a patient with retinitis punctata albescens (RPA) associated with compound heterozygosity for two novel mutations in the RLBP1 encoding cellular retinaldehyde-binding protein (CRALBP).DesignObservational case report.MethodsThe proband underwent a complete ophthalmic examination and leukocyte genomic DNA samples were obtained from him and his parents. The RLBP1 exons were analyzed by direct sequencing of PCR-amplified fragments.ResultsThe patient had a clinical phenotype suggestive of slowly progressive RPA, characterized by numerous yellow-white dots in the fundus. The RLBP1 sequence analysis revealed a novel compound heterozygotic mutation of Gly145Asp and Ile200Thr transmitted from the mother and father, respectively. Analysis of 100 control chromosomes showed no individuals with these sequence alterations.ConclusionsOnly eight RLBP1 mutations have been reported to date, and here we describe two novel mutations. These additional mutations will aid ongoing functional studies and add to our understanding of the molecular pathology pertaining to RLBP1-associated retinopathies.
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A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens
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Autor/in / Beteiligte Person: | Demirci, F Yesim K ; Rigatti, Brian W ; Mah, Tammy S ; Gorin, Michael B |
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Zeitschrift: | American Journal of Ophthalmology, Jg. 138 (2004-07-01), Heft 1 |
Veröffentlichung: | eScholarship, University of California, 2004 |
Medientyp: | academicJournal |
Umfang: | 171 - 173 |
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