Graefes Arch Clin Exp Ophthalmol (2017) 255:1613–1619 DOI 10.1007/s00417-017-3679-9 GENETICS 1 2 3 3 Hasenin Al-khersan & Kaanan P. Shah & Segun C. Jung & Alex Rodriguez & 3 4,5 Ravi K. Madduri & Michael A. Grassi Received: 14 January 2017 /Revised: 27 March 2017 /Accepted: 18 April 2017 /Published online: 1 May 2017 Springer-Verlag Berlin Heidelberg 2017 Abstract variant (c.2530C > T). The proband’s affected brother also Purpose Retinitis pigmentosa (RP) is a genetically heteroge- had both mutations. Predicted phase was confirmed in unaf- neous inherited retinal dystrophy. To date, over 80 genes have fected family members. been implicated in RP. However, the disease demonstrates Conclusion Our study identifies a novel nonsense mutation in significant locus and allelic heterogeneity not entirely cap- MERTK in a family with RP and no prior molecular diagnosis. tured by current testing platforms. The purpose of the present The present study also demonstrates the clinical value of ex- study was to characterize the underlying mutation in a patient ome sequencing in determining the genetic basis of Mendelian with RP without a molecular diagnosis after initial genetic diseases when standard genetic testing is unsuccessful. testing. . . . Methods Whole-exome sequencing of the affected
Graefe's Archive for Clinical and Experimental Ophthalmology – Springer Journals
Published: May 1, 2017
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