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ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss

Overview of attention for article published in Human Genetics, April 2018
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Title
ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss
Published in
Human Genetics, April 2018
DOI 10.1007/s00439-018-1885-0
Pubmed ID
Authors

Wu Li, Jie Sun, Jie Ling, Jiada Li, Chufeng He, Yalan Liu, Hongsheng Chen, Meichao Men, Zhijie Niu, Yuyuan Deng, Meng Li, Taoxi Li, Jie Wen, Shushan Sang, Haibo Li, Zhengqing Wan, Elodie M. Richard, Prem Chapagain, Denise Yan, Xue Zhong Liu, Lingyun Mei, Yong Feng

Abstract

Autosomal dominant nonsyndromic hearing loss (ADNSHL) is a highly genetically heterogeneous disorder. Up to date only approximately 37 ADNSHL-causing genes have been identified. The goal of this study was to determine the causative gene in a five-generation Chinese family with ADNSHL. A Chinese family was ascertained. Simultaneously, two affected individuals and one normal hearing control from the family were analyzed by whole exome capture sequencing. To assess the functional effect of the identified variant, in-vitro studies were performed. novel missense variant, c.512A>G (p.His171Arg) in exon 8 of the ELMO domain-containing 3 (ELMOD3) gene, was identified as a causative variant in this family affected by late-onset and progressive ADNSHL. The variant was validated by Sanger sequencing and found to co-segregate with the phenotype within the pedigree and was absent in 500 ethnically matched unrelated normal hearing control subjects. To our knowledge, this is the first report of a family with ADNSHL caused by ELMOD3 mutation. Western blots and immunofluorescence staining demonstrated that p.His171Arg resulted in abnormal expression levels of ELMOD3 and abnormal subcellular localization. Furthermore, the analysis of the stability of the wild-type (WT) and mutant ELMOD3 protein shows that the decay of p.His171Arg is faster than that of the WT, suggesting a shorter halflife of the c.512A > G variant. A novel variant in the ELMOD3 gene, encoding a member of the engulfment and cell motility (ELMO) family of GTPase-activating proteins, was identified for the first time as responsible for ADNSHL.

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Mendeley readers

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Geographical breakdown

Country Count As %
Unknown 6 100%

Demographic breakdown

Readers by professional status Count As %
Unspecified 4 67%
Other 1 17%
Professor 1 17%
Readers by discipline Count As %
Unspecified 4 67%
Medicine and Dentistry 2 33%

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 02 May 2018.
All research outputs
#11,452,531
of 12,884,059 outputs
Outputs from Human Genetics
#2,395
of 2,518 outputs
Outputs of similar age
#233,344
of 269,197 outputs
Outputs of similar age from Human Genetics
#11
of 12 outputs
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