| Title |
Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family
|
|---|---|
| Published in |
Molecular Biology Reports, September 2017
|
| DOI | 10.1007/s11033-017-4129-9 |
| Pubmed ID | |
| Authors |
Amale Bousfiha, Amina Bakhchane, Hicham Charoute, Mustapha Detsouli, Hassan Rouba, Majida Charif, Guy Lenaers, Abdelhamid Barakat |
| Abstract |
In the present work, we identified two novel compound heterozygote mutations in the GPR98 (G protein-coupled receptor 98) gene causing Usher syndrome. Whole-exome sequencing was performed to study the genetic causes of Usher syndrome in a Moroccan family with three affected siblings. We identify two novel compound heterozygote mutations (c.1054C > A, c.16544delT) in the GPR98 gene in the three affected siblings carrying post-linguale bilateral moderate hearing loss with normal vestibular functions and before installing visual disturbances. This is the first time that mutations in the GPR98 gene are described in the Moroccan deaf patients. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Switzerland | 2 | 67% |
| Unknown | 1 | 33% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 3 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 20 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 20 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 6 | 30% |
| Researcher | 2 | 10% |
| Student > Postgraduate | 2 | 10% |
| Professor > Associate Professor | 2 | 10% |
| Professor | 1 | 5% |
| Other | 2 | 10% |
| Unknown | 5 | 25% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 6 | 30% |
| Agricultural and Biological Sciences | 2 | 10% |
| Nursing and Health Professions | 2 | 10% |
| Medicine and Dentistry | 2 | 10% |
| Social Sciences | 1 | 5% |
| Other | 1 | 5% |
| Unknown | 6 | 30% |
Attention Score in Context
This research output has an Altmetric Attention Score of 2. 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 09 October 2017.
All research outputs
#14,956,098
of 23,003,906 outputs
Outputs from Molecular Biology Reports
#1,022
of 2,951 outputs
Outputs of similar age
#189,304
of 320,414 outputs
Outputs of similar age from Molecular Biology Reports
#1
of 6 outputs
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