Article

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy

2018-01-31

Abstract excerpt

<h4>ABSTRACT</h4> Hereditary retinal degenerations (HRDs) are Mendelian diseases characterized by progressive blindness and caused by ultra-rare mutations. In a genomic screen of 331 unrelated Japanese patients, we identify a disruptive Alu insertion and a nonsense variant (p.Arg1933*) in the ciliary gene RP1 , neither of which are rare alleles in Japan. p.Arg1933* is almost polymorphic (frequency = 0.6%, among...

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Literature Corpus work: df570db9-4316-590f-a204-ee147a9629f9
DOI: 10.1101/257634

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