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Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features

Overview of attention for article published in BMC Medical Genetics, June 2015
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About this Attention Score

  • Above-average Attention Score compared to outputs of the same age (60th percentile)
  • Good Attention Score compared to outputs of the same age and source (76th percentile)

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1 Facebook page

Citations

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12 Dimensions

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Title
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features
Published in
BMC Medical Genetics, June 2015
DOI 10.1186/s12881-015-0183-0
Pubmed ID
Authors

Muhammad Arshad Rafiq, Claire S Leblond, Muhammad Arif Nadeem Saqib, Akshita K. Vincent, Amirthagowri Ambalavanan, Falak Sher Khan, Muhammad Ayaz, Naseema Shaheen, Dan Spiegelman, Ghazanfar Ali, Muhammad Amin-ud-din, Sandra Laurent, Huda Mahmood, Mehtab Christian, Nadir Ali, Alanna Fennell, Zohair Nanjiani, Gerald Egger, Chantal Caron, Ahmed Waqas, Muhammad Ayub, Saima Rasheed, Baudouin Forgeot d’Arc, Amelie Johnson, Joyce So, Muhammad Qasim Brohi, Laurent Mottron, Muhammad Ansar, John B Vincent, Lan Xiong

Abstract

Cohen Syndrome (COH1) is a rare autosomal recessive disorder, principally identified by ocular, neural and muscular deficits. We identified three large consanguineous Pakistani families with intellectual disability and in some cases with autistic traits. Clinical assessments were performed in order to allow comparison of clinical features with other VPS13B mutations. Homozygosity mapping followed by whole exome sequencing and Sanger sequencing strategies were used to identify disease-related mutations. We identified two novel homozygous deletion mutations in VPS13B, firstly a 1 bp deletion, NM_017890.4:c.6879delT; p.Phe2293Leufs*24, and secondly a deletion of exons 37-40, which co-segregate with affected status. In addition to COH1-related traits, autistic features were reported in a number of family members, contrasting with the "friendly" demeanour often associated with COH1. The c.6879delT mutation is present in two families from different regions of the country, but both from the Baloch sub-ethnic group, and with a shared haplotype, indicating a founder effect among the Baloch population. We suspect that the c.6879delT mutation may be a common cause of COH1 and similar phenotypes among the Baloch population. Additionally, most of the individuals with the c.6879delT mutation in these two families also present with autistic like traits, and suggests that this variant may lead to a distinct autistic-like COH1 subgroup.

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 54 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 54 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 8 15%
Student > Bachelor 7 13%
Researcher 7 13%
Professor > Associate Professor 5 9%
Student > Doctoral Student 5 9%
Other 15 28%
Unknown 7 13%
Readers by discipline Count As %
Medicine and Dentistry 14 26%
Psychology 8 15%
Biochemistry, Genetics and Molecular Biology 7 13%
Agricultural and Biological Sciences 5 9%
Neuroscience 3 6%
Other 9 17%
Unknown 8 15%

Attention Score in Context

This research output has an Altmetric Attention Score of 3. 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 12 August 2015.
All research outputs
#2,193,254
of 5,476,876 outputs
Outputs from BMC Medical Genetics
#145
of 470 outputs
Outputs of similar age
#72,266
of 191,193 outputs
Outputs of similar age from BMC Medical Genetics
#6
of 26 outputs
Altmetric has tracked 5,476,876 research outputs across all sources so far. This one has received more attention than most of these and is in the 59th percentile.
So far Altmetric has tracked 470 research outputs from this source. They receive a mean Attention Score of 2.5. This one has gotten more attention than average, scoring higher than 66% of its peers.
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 191,193 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 60% of its contemporaries.
We're also able to compare this research output to 26 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 76% of its contemporaries.