{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T06:15:51Z","timestamp":1779344151969,"version":"3.51.4"},"reference-count":41,"publisher":"Cold Spring Harbor Laboratory","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"accepted":{"date-parts":[[2022,11,2]]},"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:p>A family, with two affected identical twins with early-onset recessive inherited retinal degeneration, was analyzed to determine the underlying genetic cause of pathology. Exome sequencing revealed a rare and previously reported causative variant (c.1923_1969delinsTCTGGG; p.Asn643Glyfs*29) in the<jats:italic>PDE6B<\/jats:italic>gene in the affected twins and their unaffected father. Further investigation, using genome sequencing, identified a novel \u223c7.5-kb deletion (Chr 4:670,405\u2013677,862del) encompassing the<jats:italic>ATP5ME<\/jats:italic>gene, part of the 5\u2032 UTR of<jats:italic>MYL5<\/jats:italic>, and a 378-bp (Chr 4:670,405\u2013670,782) region from the 3\u2032 UTR of<jats:italic>PDE6B<\/jats:italic>in the affected twins and their unaffected mother. Both variants segregated with disease in the family. Analysis of the relative expression of<jats:italic>PDE6B<\/jats:italic>, in peripheral blood cells, also revealed a significantly lower level of<jats:italic>PDE6B<\/jats:italic>transcript in affected siblings compared to a normal control.<jats:italic>PDE6B<\/jats:italic>is associated with recessive rod\u2013cone degeneration and autosomal dominant congenital stationary night blindness. Ophthalmic evaluation of these patients showed night blindness, fundus abnormalities, and peripheral vision loss, which are consistent with<jats:italic>PDE6B<\/jats:italic>-associated recessive retinal degeneration. These findings suggest that the loss of<jats:italic>PDE6B<\/jats:italic>transcript resulting from the compound heterozygous pathogenic variants is the underlying cause of recessive rod\u2013cone degeneration in the study family.<\/jats:p>","DOI":"10.1101\/mcs.a006247","type":"journal-article","created":{"date-parts":[[2022,11,14]],"date-time":"2022-11-14T18:55:30Z","timestamp":1668452130000},"page":"a006247","source":"Crossref","is-referenced-by-count":4,"title":["Identification of a novel large multigene deletion and a frameshift indel in<i>PDE6B<\/i>as the underlying cause of early-onset recessive rod\u2013cone 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