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Specific Alleles of CLN7 / MFSD8 , a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum…

Overview of attention for article published in Investigative Ophthalmology & Visual Science, June 2017
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About this Attention Score

  • Above-average Attention Score compared to outputs of the same age (52nd percentile)
  • Above-average Attention Score compared to outputs of the same age and source (63rd percentile)

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4 tweeters

Citations

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14 Dimensions

Readers on

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25 Mendeley
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Title
Specific Alleles of CLN7 / MFSD8 , a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy
Published in
Investigative Ophthalmology & Visual Science, June 2017
DOI 10.1167/iovs.16-20608
Pubmed ID
Authors

Kamron N. Khan, Mohammed E. El-Asrag, Cristy A. Ku, Graham E. Holder, Martin McKibbin, Gavin Arno, James A. Poulter, Keren Carss, Tejaswi Bommireddy, Saghar Bagheri, Benjamin Bakall, Hendrik P. Scholl, F. Lucy Raymond, Carmel Toomes, Chris F. Inglehearn, Mark E. Pennesi, Anthony T. Moore, Michel Michaelides, Andrew R. Webster, Manir Ali

Abstract

Recessive mutations in CLN7/MFSD8 usually cause variant late-infantile onset neuronal ceroid lipofuscinosis (vLINCL), a poorly understood neurodegenerative condition, though mutations may also cause nonsyndromic maculopathy. A series of 12 patients with nonsyndromic retinopathy due to novel CLN7/MFSD8 mutation combinations were investigated in this study. Affected patients and their family members were recruited in ophthalmic clinics at each center where they were examined by retinal imaging and detailed electrophysiology. Whole exome or genome next generation sequencing was performed on genomic DNA from at least one affected family member. Immunofluorescence confocal microscopy of murine retina cross-sections were used to localize the protein. Compound heterozygous alleles were identified in six cases, one of which was always p.Glu336Gln. Such combinations resulted in isolated macular disease. Six further cases were homozygous for the variant p.Met454Thr, identified as a founder mutation of South Asian origin. Those patients had widespread generalized retinal disease, characterized by electroretinography as a rod-cone dystrophy with severe macular involvement. In addition, the photopic single flash electroretinograms demonstrated a reduced b- to a-wave amplitude ratio, suggesting dysfunction occurring after phototransduction. Immunohistology identified MFSD8 in the outer plexiform layer of the retina, a site rich in photoreceptor synapses. This study highlights a hierarchy of MFSD8 variant severity, predicting three consequences of mutation: (1) nonsyndromic localized maculopathy, (2) nonsyndromic widespread retinopathy, or (3) syndromic neurological disease. The data also shed light on the underlying pathogenesis by implicating the photoreceptor synaptic terminals as the major site of retinal disease.

Twitter Demographics

The data shown below were collected from the profiles of 4 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 25 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 25 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 9 36%
Student > Ph. D. Student 6 24%
Student > Doctoral Student 3 12%
Student > Master 2 8%
Professor 2 8%
Other 3 12%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 7 28%
Medicine and Dentistry 7 28%
Agricultural and Biological Sciences 4 16%
Neuroscience 2 8%
Nursing and Health Professions 2 8%
Other 2 8%
Unknown 1 4%

Attention Score in Context

This research output has an Altmetric Attention Score of 2. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 13 July 2017.
All research outputs
#6,426,497
of 11,465,445 outputs
Outputs from Investigative Ophthalmology & Visual Science
#2,522
of 4,487 outputs
Outputs of similar age
#121,821
of 268,095 outputs
Outputs of similar age from Investigative Ophthalmology & Visual Science
#30
of 83 outputs
Altmetric has tracked 11,465,445 research outputs across all sources so far. This one is in the 43rd percentile – i.e., 43% of other outputs scored the same or lower than it.
So far Altmetric has tracked 4,487 research outputs from this source. They receive a mean Attention Score of 3.8. This one is in the 43rd percentile – i.e., 43% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 268,095 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 52% of its contemporaries.
We're also able to compare this research output to 83 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 63% of its contemporaries.