A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease

PURPOSE: Genetic studies were performed to identify the causative mutation in a 15-year-old girl diagnosed with congenital stationary night blindness (CSNB) presenting Mizuo-Nakamura phenomenon, a typical Oguchi disease symptom. The patient also had dural sinus thrombosis (DST), thrombocytopenia, an...

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Autores principales: Waheed, Nadia K., Qavi, Ahmed H., Malik, Sarah N., Maria, Maleeha, Riaz, Moeen, Cremers, Frans P. M., Azam, Maleeha, Qamar, Raheel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3365131/
https://www.ncbi.nlm.nih.gov/pubmed/22665972
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author Waheed, Nadia K.
Qavi, Ahmed H.
Malik, Sarah N.
Maria, Maleeha
Riaz, Moeen
Cremers, Frans P. M.
Azam, Maleeha
Qamar, Raheel
author_facet Waheed, Nadia K.
Qavi, Ahmed H.
Malik, Sarah N.
Maria, Maleeha
Riaz, Moeen
Cremers, Frans P. M.
Azam, Maleeha
Qamar, Raheel
author_sort Waheed, Nadia K.
collection PubMed
description PURPOSE: Genetic studies were performed to identify the causative mutation in a 15-year-old girl diagnosed with congenital stationary night blindness (CSNB) presenting Mizuo-Nakamura phenomenon, a typical Oguchi disease symptom. The patient also had dural sinus thrombosis (DST), thrombocytopenia, and systemic lupus erythematosus (SLE). METHODS: Mutation analysis was done by sequencing two candidate genes, S-antigen (SAG; arrestin 1), associated with Oguchi type 1, and rhodopsin kinase (GRK1), associated with Oguchi type 2. In addition, the C677T variation in the methylenetetrahydrofolate reductase (MTHFR) gene was also screened in the family, to determine its probable association with hyperhomocysteinemia in the patient. RESULTS: Sequencing of the SAG and GRK1 resulted in identifying a novel homozygous nonsense mutation (c.916G>T; p.Glu306*) in SAG, which in unaffected siblings either was present in a heterozygous state or absent. The C677T heterozygous allele in the MTHFR gene was found to be associated with hyperhomocysteinemia in the patient and other family members. CONCLUSIONS: This is the first report of Oguchi type 1 in a Pakistani patient due to a nonsense mutation (c.916G>T; p.Glu306*) in SAG. The neurologic and hematological abnormalities likely are not associated with the SAG variant.
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spelling pubmed-33651312012-06-04 A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease Waheed, Nadia K. Qavi, Ahmed H. Malik, Sarah N. Maria, Maleeha Riaz, Moeen Cremers, Frans P. M. Azam, Maleeha Qamar, Raheel Mol Vis Research Article PURPOSE: Genetic studies were performed to identify the causative mutation in a 15-year-old girl diagnosed with congenital stationary night blindness (CSNB) presenting Mizuo-Nakamura phenomenon, a typical Oguchi disease symptom. The patient also had dural sinus thrombosis (DST), thrombocytopenia, and systemic lupus erythematosus (SLE). METHODS: Mutation analysis was done by sequencing two candidate genes, S-antigen (SAG; arrestin 1), associated with Oguchi type 1, and rhodopsin kinase (GRK1), associated with Oguchi type 2. In addition, the C677T variation in the methylenetetrahydrofolate reductase (MTHFR) gene was also screened in the family, to determine its probable association with hyperhomocysteinemia in the patient. RESULTS: Sequencing of the SAG and GRK1 resulted in identifying a novel homozygous nonsense mutation (c.916G>T; p.Glu306*) in SAG, which in unaffected siblings either was present in a heterozygous state or absent. The C677T heterozygous allele in the MTHFR gene was found to be associated with hyperhomocysteinemia in the patient and other family members. CONCLUSIONS: This is the first report of Oguchi type 1 in a Pakistani patient due to a nonsense mutation (c.916G>T; p.Glu306*) in SAG. The neurologic and hematological abnormalities likely are not associated with the SAG variant. Molecular Vision 2012-05-12 /pmc/articles/PMC3365131/ /pubmed/22665972 Text en Copyright © 2012 Molecular Vision. http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Waheed, Nadia K.
Qavi, Ahmed H.
Malik, Sarah N.
Maria, Maleeha
Riaz, Moeen
Cremers, Frans P. M.
Azam, Maleeha
Qamar, Raheel
A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease
title A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease
title_full A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease
title_fullStr A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease
title_full_unstemmed A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease
title_short A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease
title_sort nonsense mutation in s-antigen (p.glu306*) causes oguchi disease
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3365131/
https://www.ncbi.nlm.nih.gov/pubmed/22665972
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