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Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome

Overview of attention for article published in BMC Genomic Data, January 2017
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Title
Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome
Published in
BMC Genomic Data, January 2017
DOI 10.1186/s12863-017-0471-0
Pubmed ID
Authors

Zahraa Haidar, Ramzi Temanni, Eliane Chouery, Puthen Jithesh, Wei Liu, Rashid Al-Ali, Ena Wang, Francesco M Marincola, Nadine Jalkh, Soha Haddad, Wassim Haidar, Lotfi Chouchane, André Mégarbané

Abstract

Hyaline fibromatosis syndrome (HFS) is a recently introduced alternative term for two disorders that were previously known as juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH). These two variants are secondary to mutations in the anthrax toxin receptor 2 gene (ANTXR2) located on chromosome 4q21. The main clinical features of both entities include papular and/or nodular skin lesions, gingival hyperplasia, joint contractures and osteolytic bone lesions that appear in the first few years of life, and the syndrome typically progresses with the appearance of new lesions. We describe five Lebanese patients from one family, aged between 28 and 58 years, and presenting with nodular and papular skin lesions, gingival hyperplasia, joint contractures and bone lesions. Because of the particular clinical features and the absence of a clinical diagnosis, Whole Genome Sequencing (WGS) was carried out on DNA samples from the proband and his parents. A mutation in ANTXR2 (p. Gly116Val) that yielded a diagnosis of HFS was noted. The main goal of this paper is to add to the knowledge related to the clinical and radiographic aspects of HFS in adulthood and to show the importance of Next-Generation Sequencing (NGS) techniques in resolving such puzzling cases.

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Mendeley readers

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 %
Unknown 25 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 5 20%
Student > Bachelor 3 12%
Student > Doctoral Student 2 8%
Professor 2 8%
Student > Ph. D. Student 2 8%
Other 4 16%
Unknown 7 28%
Readers by discipline Count As %
Medicine and Dentistry 8 32%
Biochemistry, Genetics and Molecular Biology 5 20%
Nursing and Health Professions 1 4%
Psychology 1 4%
Computer Science 1 4%
Other 0 0%
Unknown 9 36%
Attention Score in Context

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 23 September 2017.
All research outputs
#20,656,161
of 25,373,627 outputs
Outputs from BMC Genomic Data
#861
of 1,204 outputs
Outputs of similar age
#319,211
of 420,478 outputs
Outputs of similar age from BMC Genomic Data
#10
of 16 outputs
Altmetric has tracked 25,373,627 research outputs across all sources so far. This one is in the 10th percentile – i.e., 10% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,204 research outputs from this source. They receive a mean Attention Score of 4.3. This one is in the 16th percentile – i.e., 16% 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 420,478 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 16 others from the same source and published within six weeks on either side of this one. This one is in the 37th percentile – i.e., 37% of its contemporaries scored the same or lower than it.