Rod-cone dystrophy in an adult with GNB1-related disorder: An expansion of the phenotype and natural history.
Am J Med Genet C Semin Med Genet
; 193(2): 183-187, 2023 06.
Article
em En
| MEDLINE
| ID: mdl-37212526
ABSTRACT
GNB1-related disorder is characterized by intellectual disability, abnormal tone, and other variable neurologic and systemic features. GNB1 encodes the ß1 subunit of the heterotrimeric G-protein, a complex with a key role in signal transduction. Consistent with its particularly high expression in rod photoreceptors, Gß1 forms a subunit of retinal transducin (Gαtß1γ1 ), which mediates phototransduction. In mice, GNB1 haploinsufficiency has been associated with retinal dystrophy. In humans, however, although vision and eye movement abnormalities are common in individuals with GNB1-related disorder, rod-cone dystrophy is not yet an established feature of this condition. We expand the phenotype of GNB1-related disorder with the first confirmed report of rod-cone dystrophy in an affected individual, and contribute to a further understanding of the natural history of this condition in a mildly affected 45-year-old adult.
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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Retinose Pigmentar
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Subunidades beta da Proteína de Ligação ao GTP
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Distrofias de Cones e Bastonetes
Limite:
Adult
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Animals
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Humans
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Middle aged
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article