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Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome

Overview of attention for article published in BMC Medical Genetics, July 2017
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Title
Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome
Published in
BMC Medical Genetics, July 2017
DOI 10.1186/s12881-017-0418-3
Pubmed ID
Authors

Lin Yang, Zixiu Li, Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian, Wenhao Zhou

Abstract

Alström syndrome is a rare multi-systemic disorder with a broad spectrum of symptoms. This syndrome is characterized by childhood retinal degeneration; sensorineural hearing loss; obesity; type 2 diabetes mellitus; cardiomyopathy; systemic fibrosis; and pulmonary, hepatic, and renal failure. A Chinese quartet family with two siblings predominantly affected by cone-rod dystrophy and short stature were recruited. The craniofacial dysmorphism and on-set age-of-cone-rod dystrophy in the proband showed a minor intrafamilial variability. Whole genome sequencing was performed to provide the full spectrum of the two siblings' genetic variations. In this study, we present the patients' clinical features and our interpretation of the whole genome sequencing data. After examining the data, we focus on two compound heterozygous mutations, (c.3902C > A, p.S1301X; c.6436C > T, p.R2146X) in ALMS1, which are shared by two siblings. We reported a novel ALMS1 mutation. Whole genome sequencing is a powerful tool to provide the full spectrum of genetic variations for heterogeneous disorders such as Alström syndrome.

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 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 6 17%
Student > Master 5 14%
Student > Bachelor 5 14%
Student > Ph. D. Student 4 11%
Professor 2 6%
Other 5 14%
Unknown 9 25%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 7 19%
Medicine and Dentistry 7 19%
Agricultural and Biological Sciences 3 8%
Nursing and Health Professions 3 8%
Pharmacology, Toxicology and Pharmaceutical Science 2 6%
Other 4 11%
Unknown 10 28%

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 21 July 2017.
All research outputs
#10,202,341
of 11,498,428 outputs
Outputs from BMC Medical Genetics
#549
of 676 outputs
Outputs of similar age
#220,545
of 261,723 outputs
Outputs of similar age from BMC Medical Genetics
#11
of 11 outputs
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So far Altmetric has tracked 676 research outputs from this source. They receive a mean Attention Score of 2.9. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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We're also able to compare this research output to 11 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.