ArticleMolecular vision2015
Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness.
Article in Molecular vision, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- System biology analysis reveals that Grm6 is associated with glutamate accumulation-induced scotopic vision impairment in diabetic mice.Molecular vision · 2025Article
- Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.PLoS genetics · 2021Article
- Long-term follow-up of retinal function and structure inMolecular vision · 2019Article
- Heterogeneous network embedding for identifying symptom candidate genes.Journal of the American Medical Informatics Association : JAMIA · 2018Article
- Whole-Exome Sequencing Identifies Novel Variants that Co-segregates with Autosomal Recessive Retinal Degeneration in a Pakistani Pedigree.Advances in experimental medicine and biology · 2018Article
- A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.Human molecular genetics · 2016Article
- A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts.PloS one · 2016Article
Corrections and comments
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Authors and funding
12 authors.
Funding
Abstract
purposeThis study was undertaken to investigate the causal mutations responsible for autosomal recessive congenital stationary night blindness (CSNB) in consanguineous Pakistani families.
methodsTwo consanguineous families with multiple individuals manifesting symptoms of stationary night blindness were recruited. Affected individuals underwent a detailed ophthalmological examination, including fundus examination and electroretinography. Blood samples were collected and genomic DNA was extracted. Exclusion analyses were completed by genotyping closely spaced microsatellite markers, and two-point logarithm of odds (LOD) scores were calculated. All coding exons, along with the exon-intron boundaries of GRM6, were sequenced bidirectionally.
resultsAccording to the medical history available to us, affected individuals in both families had experienced night blindness from the early years of their lives. Fundus photographs of affected individuals in both the families appeared normal, with no signs of attenuated arteries or bone spicule pigmentation. The scotopic electroretinogram (ERG) response were absent in all of the affected individuals, while the photopic measurements show reduced b-waves. During exclusion analyses, both families localized to a region on chromosome 5q that harbors GRM6, a gene previously associated with autosomal recessive CSNB. Bidirectional sequencing of GRM6 identified homozygous single base pair changes, specifically c.1336C>T (p.R446X) and c.2267G>A (p.G756D) in families PKRP170 and PKRP172, respectively.
conclusionsWe identified a novel nonsense and a previously reported missense mutation in GRM6 that were responsible for autosomal recessive CSNB in patients of Pakistani decent.
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Identifiers
26628857PMC4636350What OpenQuestion holds
Registered trials
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