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These patients usually have normal vision in light. Only few mutations in genes coding for proteins of the phototransduction cascade lead to this condition; most of these gene defects cause progressive rod-cone dystrophy. Mutation analysis of an adCSNB family with a Riggs-type ERG revealed a novel variant (c.155T&gt;A p.Ile52Asn) in<jats:italic>GNAT1<\/jats:italic>coding for the<jats:italic>\u03b1<\/jats:italic>-subunit of transducin, cosegregating with the phenotype. Domain predictions and 3D-modelling suggest that the variant does not affect the GTP-binding site as other<jats:italic>GNAT1<\/jats:italic>adCSNB mutations do. It affects a predicted nuclear localization signal and a part of the first<jats:italic>\u03b1<\/jats:italic>-helix, which is distant from the GTP-binding site. The subcellular protein localization of this and other mutant GNAT1 proteins implicated in CSNB are unaltered in mammalian GNAT1 overexpressing cells. Our findings add a third<jats:italic>GNAT1<\/jats:italic>mutation causing adCSNB and suggest that different pathogenic mechanisms may cause this condition.<\/jats:p>","DOI":"10.1155\/2018\/7694801","type":"journal-article","created":{"date-parts":[[2018,4,23]],"date-time":"2018-04-23T23:32:41Z","timestamp":1524526361000},"page":"1-10","source":"Crossref","is-referenced-by-count":12,"title":["A Novel Heterozygous Missense Mutation in<i>GNAT1<\/i>Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness"],"prefix":"10.1155","volume":"2018","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3510-1712","authenticated-orcid":true,"given":"Christina","family":"Zeitz","sequence":"first","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de la Vision, Paris, 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