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In search of triallelism in Bardet–Biedl syndrome

Overview of attention for article published in European Journal of Human Genetics, February 2012
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Title
In search of triallelism in Bardet–Biedl syndrome
Published in
European Journal of Human Genetics, February 2012
DOI 10.1038/ejhg.2011.205
Pubmed ID
Authors

Leen Abu-Safieh, Shamsa Al-Anazi, Lama Al-Abdi, Mais Hashem, Hisham Alkuraya, Mushari Alamr, Mugtaba O Sirelkhatim, Zuhair Al-Hassnan, Basim Alkuraya, Jawahir Y Mohamed, Ahmad Al-Salem, May Alrashed, Eissa Faqeih, Ameen Softah, Amal Al-Hashem, Sami Wali, Zuhair Rahbeeni, Moeen Alsayed, Arif O Khan, Lihadh Al-Gazali, Peter EM Taschner, Selwa Al-Hazzaa, Fowzan S Alkuraya

Abstract

Bardet-Biedl syndrome (BBS) is a model disease for ciliopathy in humans. The remarkable genetic heterogeneity that characterizes this disease is consistent with accumulating data on the interaction between the proteins encoded by the 14 BBS genes identified to date. Previous reports suggested that such interaction may also extend to instances of oligogenic inheritance in the form of triallelism which defies the long held view of BBS as an autosomal recessive disease. In order to investigate the magnitude of triallelism in BBS, we conducted a comprehensive analysis of all 14 BBS genes as well as the CCDC28B-modifier gene in a cohort of 29 BBS families, most of which are multiplex. Two in trans mutations in a BBS gene were identified in each of these families for a total of 20 mutations including 12 that are novel. In no instance did we observe two mutations in unaffected members of a given family, or observe the presence of a third allele that convincingly acted as a modifier of penetrance and supported the triallelic model of BBS. In addition to presenting a comprehensive genotype/phenotype overview of a large set of BBS mutations, including the occurrence of nonsyndromic retinitis pigmentosa in a family with a novel BBS9 mutation, our study argues in favor of straightforward autosomal recessive BBS in most cases.

Twitter Demographics

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Mendeley readers

The data shown below were compiled from readership statistics for 53 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 2 4%
Unknown 51 96%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 20 38%
Researcher 11 21%
Student > Master 6 11%
Other 5 9%
Student > Bachelor 4 8%
Other 7 13%
Readers by discipline Count As %
Agricultural and Biological Sciences 24 45%
Medicine and Dentistry 13 25%
Biochemistry, Genetics and Molecular Biology 11 21%
Unspecified 2 4%
Social Sciences 1 2%
Other 2 4%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 March 2012.
All research outputs
#9,860,001
of 12,346,729 outputs
Outputs from European Journal of Human Genetics
#2,058
of 2,344 outputs
Outputs of similar age
#81,106
of 114,558 outputs
Outputs of similar age from European Journal of Human Genetics
#38
of 52 outputs
Altmetric has tracked 12,346,729 research outputs across all sources so far. This one is in the 11th percentile – i.e., 11% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,344 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.4. This one is in the 5th percentile – i.e., 5% 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 114,558 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 14th percentile – i.e., 14% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 52 others from the same source and published within six weeks on either side of this one. This one is in the 13th percentile – i.e., 13% of its contemporaries scored the same or lower than it.