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Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family

Overview of attention for article published in Genetics and Molecular Biology, June 2017
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  • Above-average Attention Score compared to outputs of the same age and source (57th percentile)

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Title
Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family
Published in
Genetics and Molecular Biology, June 2017
DOI 10.1590/1678-4685-gmb-2016-0120
Pubmed ID
Authors

Yunqiang Liu, Yongjie Lu, Shasha Liu, Shunyao Liao

Abstract

Anophthalmia is a rare eye development anomaly resulting in absent ocular globes or tissue in the orbit since birth. Here, we investigated a newborn with bilateral anophthalmia in a Chinese family. Exome sequencing revealed that compound heterozygous mutations c.287G > A (p.(Arg96His)) and c.709G > A (p.(Gly237Arg)) of the ALDH1A3 gene were present in the affected newborn. Both mutations were absent in all of the searched databases, including 10,000 in-house Chinese exome sequences, and these mutations were confirmed as having been transmitted from the parents. Comparative amino acid sequence analysis across distantly related species revealed that the residues at positions 96 and 234 were evolutionarily highly conserved. In silico analysis predicted these changes to be damaging, and in vitro expression analysis revealed that the mutated alleles were associated with decreased protein production and impaired tetrameric protein formation. This study firstly reported that compound heterozygous mutations of the ALDH1A3 gene can result in anophthalmia in humans, thus highlighting those heterozygous mutations in ALDH1A3 should be considered for molecular screening in anophthalmia, particularly in cases from families without consanguineous relationships.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 10 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 1 10%
Unknown 9 90%

Demographic breakdown

Readers by professional status Count As %
Student > Master 3 30%
Researcher 3 30%
Librarian 1 10%
Student > Ph. D. Student 1 10%
Unknown 2 20%
Readers by discipline Count As %
Medicine and Dentistry 3 30%
Agricultural and Biological Sciences 2 20%
Nursing and Health Professions 1 10%
Immunology and Microbiology 1 10%
Computer Science 1 10%
Other 0 0%
Unknown 2 20%
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 16 June 2017.
All research outputs
#17,289,387
of 25,382,440 outputs
Outputs from Genetics and Molecular Biology
#408
of 772 outputs
Outputs of similar age
#211,522
of 331,621 outputs
Outputs of similar age from Genetics and Molecular Biology
#4
of 14 outputs
Altmetric has tracked 25,382,440 research outputs across all sources so far. This one is in the 21st percentile – i.e., 21% of other outputs scored the same or lower than it.
So far Altmetric has tracked 772 research outputs from this source. They receive a mean Attention Score of 4.8. This one is in the 32nd percentile – i.e., 32% 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 331,621 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 27th percentile – i.e., 27% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 14 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 57% of its contemporaries.