| Accession | PRJCA005815 | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Title | Novel compound heterozygous mutations in MYO15A identified in one Chinese family with autosomal recessive non-syndromic hearing loss | ||||||||||||
| Relevance | Medical | ||||||||||||
| Data types |
Exome
Targeted Locus (Loci) Raw sequence reads Genome sequencing |
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| Organisms | Homo sapiens | ||||||||||||
| Description | One non-consanguineous Chinese family with ARNSHL was included in this study. Accordingly, clinical evaluations and genetic analysis were performed in this family. Genetic analysis mainly included NGS detection, Sanger sequencing confirmation and bioinformatics analysis. We identified three compound heterozygous mutations in MYO15A that cause deafness, including two novel mutations, c.6804G>A (p.M2268I) and c.6188_6190delinsGTCA (p.F2063Cfs*60). Multiple bioinformatics analysis indicated that they seem to be harmful, which was also consistent with the clinical phenotype of deafness. | ||||||||||||
| Sample scope | Multiisolate | ||||||||||||
| Release date | 2023-07-19 | ||||||||||||
| Grants |
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| Submitter | Luming Wang (wangluming1988@zjxu.edu.cn) | ||||||||||||
| Organization | Jiaxing Maternity and Child Health Care Hospital | ||||||||||||
| Submission date | 2021-07-12 |
| Resource name | Description |
|---|---|
| BioSample (5) | - |
| SAMC1845535 | 3-1 |
| SAMC1845529 | 2-3 |
| SAMC1845526 | 2-2 |
| SAMC1845522 | 1-4 |
| SAMC1845518 | 1-3 |