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Xueting Luo, Jian Liang, Xiaodong Sun; Identification of novel PROM1 mutations responsible for autosomal recessive maculopathy with rod-cone dystrophy . Invest. Ophthalmol. Vis. Sci. 2019;60(9):4497.
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© ARVO (1962-2015); The Authors (2016-present)
To characterize two patients with macular and rod-cone dystrophy and identify the genetic basis for disease.
Ophthalmic examinations were performed for the family and the peripheral blood samples were collected for whole exome sequecing. The mutated sequences of PROM1 gene were cloned and expressed in cultured cell lines after transient transfection followed by analysis with confocal microscopy and bridge-PCR.
We reported that two patients, brothers in a family, were diagnosed with macular and rod-cone dystrophy. Phenotypically, both patients experience progressive visual impairment and nyctalopia. The fundus examination showed macular and choroid dystrophy with pigment deposits in the macular region. Functionally, photoreceptor response to electrophysiological stimulation were significantly compromised with more severe decline in rods. Genetic analysis by whole exome sequencing revealed two novel compound heterogeneous point mutations in PROM1 gene that co-segregate with patients in an autosomal recessive manner. Specifically, the c.C1902G(p.Y634X) nonsense mutation results in a truncated, labile and mislocalized protein, while the c.C1682+3A>G intronic mutation disrupts messenger RNA splicing.
Our findings have identified two novel deleterious mutations in PROM1 gene that are associated with hereditary macular and rod-cone dystrophy in human.
This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.
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