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An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes

Overview of attention for article published in Orphanet Journal of Rare Diseases, February 2017
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Title
An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes
Published in
Orphanet Journal of Rare Diseases, February 2017
DOI 10.1186/s13023-017-0582-8
Pubmed ID
Authors

Polona Le Quesne Stabej, Chela James, Louise Ocaka, Mehmet Tekman, Stephanie Grunewald, Emma Clement, Horia C. Stanescu, Robert Kleta, Deborah Morrogh, Alistair Calder, Hywel J. Williams, Maria Bitner-Glindzicz

Abstract

We describe molecular diagnosis in a complex consanguineous family: four offspring presented with combinations of three distinctive phenotypes; non-syndromic hearing loss (NSHL), an unusual skeletal phenotype comprising multiple fractures, cranial abnormalities and diaphyseal expansion, and significant developmental delay with microcephaly. We performed Chromosomal Microarray Analysis on the offspring with either the skeletal or developmental delay phenotypes, and linkage analysis and whole exome sequencing (WES) on all four children, parents and maternal aunt. Chromosomal microarray and FISH analysis identified a de novo unbalanced translocation as a cause of the microcephaly and severe developmental delay. WES identified a NSHL-causing splice variant in an autosomal recessive deafness gene PDZD7 which resided in a linkage region and affected three of the children. In the two children diagnosed with an unusual skeletal phenotype, WES eventually disclosed a heterozygous COL1A1 variant which affects C-propetide cleavage site of COL1. The variant was inherited from an apparently unaffected mosaic father in an autosomal dominant fashion. After the discovery of the COL1A1 variant, the skeletal phenotype was diagnosed as a high bone mass form of osteogenesis imperfecta. Next generation sequencing offers an unbiased approach to molecular genetic diagnosis in highly heterogeneous and poorly characterised disorders and enables early diagnosis as well as detection of mosaicism.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 36 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 36 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 5 14%
Student > Doctoral Student 4 11%
Student > Master 3 8%
Other 2 6%
Professor 2 6%
Other 4 11%
Unknown 16 44%
Readers by discipline Count As %
Psychology 5 14%
Medicine and Dentistry 4 11%
Nursing and Health Professions 4 11%
Biochemistry, Genetics and Molecular Biology 3 8%
Sports and Recreations 1 3%
Other 1 3%
Unknown 18 50%
Attention Score in Context

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 14 February 2017.
All research outputs
#13,536,217
of 22,952,268 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,421
of 2,636 outputs
Outputs of similar age
#210,923
of 420,202 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#29
of 59 outputs
Altmetric has tracked 22,952,268 research outputs across all sources so far. This one is in the 39th percentile – i.e., 39% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,636 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.6. 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 420,202 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 48th percentile – i.e., 48% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 59 others from the same source and published within six weeks on either side of this one. This one is in the 47th percentile – i.e., 47% of its contemporaries scored the same or lower than it.