Identification of the PROM1 Mutation p.R373C in a Korean Patient With Autosomal Dominant Stargardt-like Macular Dystrophy

Stargardt-like macular dystrophy 4 (STGD4) is a rare macular dystrophy characterized by bull's eye atrophy of the macula and the underlying retinal pigment epithelium. Patients with STGD4 show decreased central vision, which often progresses to severe vision loss. The PROM1 gene encodes promini...

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Bibliographic Details
Published in:Annals of laboratory medicine 2017, 37(6), , pp.536-539
Main Authors: Kim, Jong Min, Lee, Chung, Lee, Ga In, Kim, Nayoung K D, Ki, Chang Seok, Park, Woong Yang, Kim, Byoung Joon, Kim, Sang Jin
Format: Article
Language:English
Subjects:
AC133 Antigen - genetics
Adult
Asian Continental Ancestry Group - genetics
Base Sequence
Brief Communication
Heterozygote
Humans
Macular Degeneration - congenital
Macular Degeneration - diagnosis
Macular Degeneration - genetics
Male
Mutation, Missense
Pedigree
Republic of Korea
Sequence Analysis, DNA
Tomography, Optical Coherence
Visual Fields
병리학
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Summary:Stargardt-like macular dystrophy 4 (STGD4) is a rare macular dystrophy characterized by bull's eye atrophy of the macula and the underlying retinal pigment epithelium. Patients with STGD4 show decreased central vision, which often progresses to severe vision loss. The PROM1 gene encodes prominin-1, which is a 5-transmembrane glycoprotein also known as CD133 and is involved in photoreceptor disk morphogenesis. PROM1 mutations have been identified as genetic causes for STGD4 and other retinal degenerations such as retinitis pigmentosa. We report a case of STGD4 with a PROM1 p.R373C mutation in a Korean patient. Ophthalmic examinations of a 38-yr old man complaining of decreased visual acuity revealed bilateral atrophic macular lesions consistent with STGD4. Targeted exome sequencing of known inherited retinal degeneration genes revealed a heterozygous missense mutation c.1117C>T (p.R373C) of PROM1, which was confirmed by Sanger sequencing. To the best of our knowledge, this is the first case of a PROM1 mutation causing STGD4 in Koreans.
ISSN:2234-3806
2234-3814
DOI:10.3343/alm.2017.37.6.536