A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens

American Journal of Ophthalmology
F Yesim K DemirciMichael B Gorin

Abstract

To 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). Observational case report. The 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. The 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. Only 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.

References

Feb 28, 2002·American Journal of Human Genetics·Erica R EichersNicholas Katsanis
Jan 22, 2003·The Journal of Biological Chemistry·Zhiping WuJohn W Crabb

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Citations

Oct 25, 2008·Documenta Ophthalmologica. Advances in Ophthalmology·Manal HajaliMartin Lindeman
May 9, 2012·Ophthalmology·Karin W LittinkL Ingeborgh van den Born
Apr 28, 2006·Acta Ophthalmologica Scandinavica·Takaaki HayashiKenji Kitahara
May 4, 2012·Acta Ophthalmologica·Marie BurstedtIrina Golovleva
Sep 30, 2014·Traffic·Nozomu Kono, Hiroyuki Arai

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