↓ Skip to main content

Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2

Overview of attention for article published in Neuromuscular Disorders, October 2015
Altmetric Badge

Mentioned by

twitter
1 tweeter

Citations

dimensions_citation
9 Dimensions

Readers on

mendeley
24 Mendeley
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
Title
Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2
Published in
Neuromuscular Disorders, October 2015
DOI 10.1016/j.nmd.2015.07.017
Pubmed ID
Authors

Justin D. Wagner, Lijia Huang, Martine Tetreault, Jacek Majewski, Kym M. Boycott, Dennis E. Bulman, David A. Dyment, Hugh J. McMillan

Abstract

Charcot-Marie-Tooth disease is a group of genetically heterogeneous disorders characterized by a sensorimotor polyneuropathy with subsequent muscle atrophy, areflexia, and sensory loss. More than 60 genes have been linked to Charcot-Marie-Tooth phenotypes, including IGHMBP2. Until recently, mutations in IGHMBP2 were exclusively associated with spinal muscular atrophy with respiratory distress (SMARD1). We present a sibling pair with a novel homozygous truncating mutation in IGHMBP2. The patients presented with childhood-onset distal weakness, wasting in the upper and lower limbs, areflexia and decreased sensation, but no respiratory involvement. Exome sequencing was performed and a homozygous variant was identified (c.2601_2604del; p.Lys868Profs*109). Sanger sequencing confirmed the presence of this variant in a homozygous state in the two affected siblings, while both parents were heterozygous. Further analyses showed decreased mRNA and IGHMBP2 protein in a lymphoblast cell line derived from one of the siblings. We demonstrate the utility of next-generation sequencing in reaching a molecular diagnosis for a heterogeneous condition such as Charcot-Marie-Tooth. Taken together, our data and that from the literature suggest that the spectrum of clinical presentations associated with mutations in IGHMBP2 may be secondary, at least in part, to the amount of residual protein.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter 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 24 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 24 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 10 42%
Student > Ph. D. Student 5 21%
Student > Bachelor 3 13%
Other 2 8%
Student > Postgraduate 1 4%
Other 0 0%
Unknown 3 13%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 5 21%
Medicine and Dentistry 5 21%
Neuroscience 5 21%
Agricultural and Biological Sciences 2 8%
Nursing and Health Professions 1 4%
Other 3 13%
Unknown 3 13%

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 15 June 2016.
All research outputs
#10,891,580
of 12,289,896 outputs
Outputs from Neuromuscular Disorders
#869
of 1,087 outputs
Outputs of similar age
#200,066
of 243,307 outputs
Outputs of similar age from Neuromuscular Disorders
#21
of 30 outputs
Altmetric has tracked 12,289,896 research outputs across all sources so far. This one is in the 1st percentile – i.e., 1% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,087 research outputs from this source. They receive a mean Attention Score of 2.3. This one is in the 1st percentile – i.e., 1% 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 243,307 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 30 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.