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Genome Information for Homo sapiens
Our goal is to find genes responsible for non-syndromic sensorineural hearing loss. Blood samples were collected from the JS6 family affected with hearing loss. The family is of Caribbean Hispanic ethnicity. Family JS6 consisted of two deaf siblings, JS6.001 (Male) and JS6.002 (Female) and healthy parents, JS6.100 (mother) and JS6.200 (father). The siblings had no other medical findings. Audiometry tests and Rinne and Weber tuning fork tests identified sensorineural hearing loss in the two siblings. We performed whole exome sequencing of the four individuals and identified a recessive mutation, p.(Arg186Trp), in the CIB2 gene in the two affected siblings. Both parents were unaffected carriers.
| Accession | PRJNA291947; dbGaP: phs000969 |
| Type | Umbrella project (Subtype:Authorized Access) |
| Organism | Homo sapiens[Taxonomy ID: 9606] Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo; Homo sapiens |
| Submission | Registration date: 5-Aug-2015
NIDCD |
| Relevance | Medical |
Project Data:
| Resource Name | Number
of Links |
|---|
| Sequence data |
| SRA Experiments | 4 |
| Other datasets |
| BioSample | 4 |
| Genotype and Phenotype (dbGaP) | 1 |
Homo sapiens encompasses the following sub-project:
| Project Type | Number of Projects |
| Phenotype or Genotype | 1 |
BioProject
accession | Organism | Title |
|---|
| PRJNA291948 | Homo sapiens | Whole exome sequence of hearing loss family (Albert Einstein College of...) |
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