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Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin.

Molecular vision - 1 Jan 2015

Ravesh Zeinab, El Asrag Mohammed E, Weisschuh Nicole, McKibbin Martin, Reuter Peggy, Watson Christopher M, Baumann Britta, Poulter James A, Sajid Sundus, Panagiotou Evangelia S, O'Sullivan James, Abdelhamed Zakia, Bonin Michael, Soltanifar Mehdi, Black Graeme C M, Amin-ud Din Muhammad, Toomes Carmel, Ansar Muhammad, Inglehearn Chris F, Wissinger Bernd, Ali Manir

Abstract excerpt

PURPOSE: To investigate the molecular basis of retinitis pigmentosa in two consanguineous families of Pakistani origin with multiple affected members. METHODS: Homozygosity mapping and Sanger sequencing of candidate genes were performed in one family while the other was analyzed with whole exome next-generation sequencing. A minigene splicing assay was used to confirm the splicing defects. RESULTS: In family...

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PMID: 25802487
PMCID: PMC4357040

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