a novel heterozygous missense mutation in gnat1 leads to autosomal dominant riggs type of congenital stationary night blindness
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2018
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Abstract
Autosomal dominant congenital stationary night blindness (adCSNB) is rare and results from altered phototransduction giving a Riggs type of electroretinogram (ERG) with loss of the rod a-wave and small b-waves. 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>A p.Ile52Asn) in GNAT1 coding for the α-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 GNAT1 adCSNB mutations do. It affects a predicted nuclear localization signal and a part of the first α-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 GNAT1 mutation causing adCSNB and suggest that different pathogenic mechanisms may cause this condition.
| Reference Key |
zeitz2018biomeda
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| Authors | ;Christina Zeitz;Cécile Méjécase;Mathilde Stévenard;Christelle Michiels;Isabelle Audo;Michael F. Marmor |
| Journal | spectrochimica acta - part a: molecular and biomolecular spectroscopy |
| Year | 2018 |
| DOI |
10.1155/2018/7694801
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