Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy.
GNAT1, encoding the transducin subunit Gα, is an important element of the phototransduction cascade. Mutations in this gene have been associated with autosomal dominant and autosomal recessive congenital stationary night blindness. Recently, a homozygous truncating GNAT1 mutation was identified in a...
| Main Authors: | , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2016-01-01
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| Series: | PLoS ONE |
| Online Access: | http://europepmc.org/articles/PMC5158031?pdf=render |
| _version_ | 1811209103719006208 |
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| author | Cécile Méjécase Caroline Laurent-Coriat Claudine Mayer Olivier Poch Saddek Mohand-Saïd Camille Prévot Aline Antonio Fiona Boyard Christel Condroyer Christelle Michiels Steven Blanchard Mélanie Letexier Jean-Paul Saraiva José-Alain Sahel Isabelle Audo Christina Zeitz |
| author_facet | Cécile Méjécase Caroline Laurent-Coriat Claudine Mayer Olivier Poch Saddek Mohand-Saïd Camille Prévot Aline Antonio Fiona Boyard Christel Condroyer Christelle Michiels Steven Blanchard Mélanie Letexier Jean-Paul Saraiva José-Alain Sahel Isabelle Audo Christina Zeitz |
| author_sort | Cécile Méjécase |
| collection | DOAJ |
| description | GNAT1, encoding the transducin subunit Gα, is an important element of the phototransduction cascade. Mutations in this gene have been associated with autosomal dominant and autosomal recessive congenital stationary night blindness. Recently, a homozygous truncating GNAT1 mutation was identified in a patient with late-onset rod-cone dystrophy. After exclusion of mutations in genes underlying progressive inherited retinal disorders, by targeted next generation sequencing, a 32 year-old male sporadic case with severe rod-cone dystrophy and his unaffected parents were investigated by whole exome sequencing. This led to the identification of a homozygous nonsense variant, c.963C>A p.(Cys321*) in GNAT1, which was confirmed by Sanger sequencing. The mother was heterozygous for this variant whereas the variant was absent in the father. c.963C>A p.(Cys321*) is predicted to produce a shorter protein that lacks critical sites for the phototransduction cascade. Our work confirms that the phenotype and the mode of inheritance associated with GNAT1 variants can vary from autosomal dominant, autosomal recessive congenital stationary night blindness to autosomal recessive rod-cone dystrophy. |
| first_indexed | 2024-04-12T04:33:49Z |
| format | Article |
| id | doaj.art-c22a62abdaa34ba388d681822c85bfe1 |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-04-12T04:33:49Z |
| publishDate | 2016-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-c22a62abdaa34ba388d681822c85bfe12022-12-22T03:47:52ZengPublic Library of Science (PLoS)PLoS ONE1932-62032016-01-011112e016827110.1371/journal.pone.0168271Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy.Cécile MéjécaseCaroline Laurent-CoriatClaudine MayerOlivier PochSaddek Mohand-SaïdCamille PrévotAline AntonioFiona BoyardChristel CondroyerChristelle MichielsSteven BlanchardMélanie LetexierJean-Paul SaraivaJosé-Alain SahelIsabelle AudoChristina ZeitzGNAT1, encoding the transducin subunit Gα, is an important element of the phototransduction cascade. Mutations in this gene have been associated with autosomal dominant and autosomal recessive congenital stationary night blindness. Recently, a homozygous truncating GNAT1 mutation was identified in a patient with late-onset rod-cone dystrophy. After exclusion of mutations in genes underlying progressive inherited retinal disorders, by targeted next generation sequencing, a 32 year-old male sporadic case with severe rod-cone dystrophy and his unaffected parents were investigated by whole exome sequencing. This led to the identification of a homozygous nonsense variant, c.963C>A p.(Cys321*) in GNAT1, which was confirmed by Sanger sequencing. The mother was heterozygous for this variant whereas the variant was absent in the father. c.963C>A p.(Cys321*) is predicted to produce a shorter protein that lacks critical sites for the phototransduction cascade. Our work confirms that the phenotype and the mode of inheritance associated with GNAT1 variants can vary from autosomal dominant, autosomal recessive congenital stationary night blindness to autosomal recessive rod-cone dystrophy.http://europepmc.org/articles/PMC5158031?pdf=render |
| spellingShingle | Cécile Méjécase Caroline Laurent-Coriat Claudine Mayer Olivier Poch Saddek Mohand-Saïd Camille Prévot Aline Antonio Fiona Boyard Christel Condroyer Christelle Michiels Steven Blanchard Mélanie Letexier Jean-Paul Saraiva José-Alain Sahel Isabelle Audo Christina Zeitz Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy. PLoS ONE |
| title | Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy. |
| title_full | Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy. |
| title_fullStr | Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy. |
| title_full_unstemmed | Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy. |
| title_short | Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy. |
| title_sort | identification of a novel homozygous nonsense mutation confirms the implication of gnat1 in rod cone dystrophy |
| url | http://europepmc.org/articles/PMC5158031?pdf=render |
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