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Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication

Overview of attention for article published in BMC Medical Genetics, November 2016
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Title
Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication
Published in
BMC Medical Genetics, November 2016
DOI 10.1186/s12881-016-0340-0
Pubmed ID
Authors

Jila Dastan, Chieko Chijiwa, Flamingo Tang, Sally Martell, Ying Qiao, Evica Rajcan-Separovic, M. E. Suzanne Lewis

Abstract

The recurrent microduplication of 16p11.2 (dup16p11.2) is associated with a broad spectrum of neurodevelopmental disorders (NDD) confounded by incomplete penetrance and variable expressivity. This inter- and intra-familial clinical variability highlights the importance of personalized genetic counselling in individuals at-risk. In this study, we performed whole exome sequencing (WES) to look for other genomic alterations that could explain the clinical variability in a family with a boy presenting with NDD who inherited the dup16p11.2 from his apparently healthy mother. We identified novel splicing variants of VPS13B (8q22.2) in the proband with compound heterozygous inheritance. Two VPS13B mutations abolished the canonical splice sites resulting in low RNA expression in transformed lymphoblasts of the proband. VPS13B mutation causes Cohen syndrome (CS) consistent with the proband's phenotype (intellectual disability (ID), microcephaly, facial gestalt, retinal dystrophy, joint hypermobility and neutropenia). The new diagnosis of CS has important health implication for the proband, provides the opportunity for more meaningful and accurate genetic counselling for the family; and underscores the importance of longitudinally following patients for evolving phenotypic features. This is the first report of a co-occurrence of pathogenic variants with familial dup16p11.2. Our finding suggests that the variable expressivity among carriers of rare putatively pathogenic CNVs such as dup16p11.2 warrants further study by WES and individualized genetic counselling of families with such CNVs.

Twitter Demographics

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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 %
United Kingdom 1 4%
France 1 4%
Unknown 23 92%

Demographic breakdown

Readers by professional status Count As %
Student > Master 6 24%
Student > Ph. D. Student 5 20%
Student > Bachelor 3 12%
Student > Postgraduate 2 8%
Student > Doctoral Student 2 8%
Other 4 16%
Unknown 3 12%
Readers by discipline Count As %
Medicine and Dentistry 7 28%
Neuroscience 4 16%
Nursing and Health Professions 2 8%
Biochemistry, Genetics and Molecular Biology 2 8%
Unspecified 2 8%
Other 4 16%
Unknown 4 16%

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 14 November 2016.
All research outputs
#6,573,877
of 8,629,768 outputs
Outputs from BMC Medical Genetics
#374
of 578 outputs
Outputs of similar age
#167,220
of 240,762 outputs
Outputs of similar age from BMC Medical Genetics
#7
of 22 outputs
Altmetric has tracked 8,629,768 research outputs across all sources so far. This one is in the 13th percentile – i.e., 13% of other outputs scored the same or lower than it.
So far Altmetric has tracked 578 research outputs from this source. They receive a mean Attention Score of 2.8. This one is in the 19th percentile – i.e., 19% of its peers scored the same or lower than it.
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We're also able to compare this research output to 22 others from the same source and published within six weeks on either side of this one. This one is in the 36th percentile – i.e., 36% of its contemporaries scored the same or lower than it.