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Contiguous 22.1-kb deletion embracing AVPR2 and ARHGAP4 genes at novel breakpoints leads to nephrogenic diabetes insipidus in a Chinese pedigree

Overview of attention for article published in BMC Nephrology, February 2018
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Title
Contiguous 22.1-kb deletion embracing AVPR2 and ARHGAP4 genes at novel breakpoints leads to nephrogenic diabetes insipidus in a Chinese pedigree
Published in
BMC Nephrology, February 2018
DOI 10.1186/s12882-018-0825-5
Pubmed ID
Authors

Ying Bai, Yibing Chen, Xiangdong Kong

Abstract

It has been reported that mutations in arginine vasopressin type 2 receptor (AVPR2) cause congenital X-linked nephrogenic diabetes insipidus (NDI). However, only a few cases of AVPR2 deletion have been documented in China. An NDI pedigree was included in this study, including the proband and his mother. All NDI patients had polyuria, polydipsia, and growth retardation. PCR mapping, long range PCR and sanger sequencing were used to identify genetic causes of NDI. A novel 22,110 bp deletion comprising AVPR2 and ARH4GAP4 genes was identified by PCR mapping, long range PCR and sanger sequencing. The deletion happened perhaps due to the 4-bp homologous sequence (TTTT) at the junctions of both 5' and 3' breakpoints. The gross deletion co-segregates with NDI. After analyzing available data of putative clinical signs of AVPR2 and ARH4GAP4 deletion, we reconsider the potential role of AVPR2 deletion in short stature. We identified a novel 22.1-kb deletion leading to X-linked NDI in a Chinese pedigree, which would increase the current knowledge in AVPR2 mutation.

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 8 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 8 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 1 13%
Student > Ph. D. Student 1 13%
Researcher 1 13%
Other 1 13%
Unknown 4 50%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 1 13%
Nursing and Health Professions 1 13%
Psychology 1 13%
Medicine and Dentistry 1 13%
Unknown 4 50%

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 06 February 2018.
All research outputs
#9,982,825
of 12,470,921 outputs
Outputs from BMC Nephrology
#919
of 1,249 outputs
Outputs of similar age
#246,119
of 339,644 outputs
Outputs of similar age from BMC Nephrology
#1
of 1 outputs
Altmetric has tracked 12,470,921 research outputs across all sources so far. This one is in the 11th percentile – i.e., 11% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,249 research outputs from this source. They receive a mean Attention Score of 3.1. This one is in the 11th percentile – i.e., 11% of its peers scored the same or lower than it.
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