{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T05:56:00Z","timestamp":1788587760359,"version":"build-2803163510"},"reference-count":35,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2019,11,2]],"date-time":"2019-11-02T00:00:00Z","timestamp":1572652800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The congenital stationary night blindness (CSNB) affects the patients' dim light vision or dark adaption by impairing the normal function of retina. It is a clinically and genetically heterogeneous disorder and can be inherited in an X\u2010linked, autosomal dominant or autosomal recessive pattern. Several genetic alterations to the genes involved in visual signal transduction of photoreceptors and\/or bipolar cells underlie its pathogenesis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this study, we used Sanger sequencing and next\u2010generation sequencing (NGS)\u2010based gene panel screening to investigate a family of three patients with CSNB inherited in an apparent autosomal dominant pattern. We expected to find out the disease\u2010causing gene defects carried by this family.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We found that the patients in this family did not carry the <jats:italic>RHO<\/jats:italic>, <jats:italic>GNAT1<\/jats:italic>, or <jats:italic>PDE6B<\/jats:italic> mutation, but carried compound heterozygotes mutations of <jats:italic>GRM6<\/jats:italic>. Three deleterious <jats:italic>GRM6<\/jats:italic> variants, p.Arg621Ter, p.Gly51Val, and p.Gly464Arg, were found to be co\u2010segregating with the disease, causing a pseudodominant inheritance of <jats:italic>GRM6<\/jats:italic>\u2010related autosomal recessive complete CSNB.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study presents a rare case of autosomal recessive CSNB (arCSNB) pseudodominant inheritance, which potentially leads us to expand our gene candidate list in future genetic testing for apparent dominant pedigrees. The discovery of the two novel likely pathogenic variants p.Gly51Val and p.Gly464Arg could broaden our knowledge about the genetics of CSNB and provide insights into the structure and function of the GRM6 protein.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.952","type":"journal-article","created":{"date-parts":[[2019,11,2]],"date-time":"2019-11-02T08:38:32Z","timestamp":1572683912000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Pseudodominant inheritance of autosomal recessive congenital stationary night blindness in one family with three co\u2010segregating deleterious <i>GRM6<\/i> variants identified by next\u2010generation sequencing"],"prefix":"10.1002","volume":"7","author":[{"given":"Hong\u2010Yan","family":"Liu","sequence":"first","affiliation":[{"name":"Institute of Medical Genetics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, School of Clinical Medicine Henan 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