| Accession |
PRJCA001141 |
| Title |
Deafness Project |
| Relevance |
Medical |
| Data types |
Targeted Locus (Loci)
|
| Organisms |
Homo sapiens
|
| Description |
Hereditary hearing impairment is one of the major and common birth defects in Chinese population. Presently, 127 genes have been identified to be associated with both hearing loss. Here, we studied a Chinese family with moderate and profound hearing impairment. The patient is a 30-year old Chinese man. The patient was born with normal hearing and at the age of 5-year,the patient was first noticed with hearing impairment. Gradually and progressively the patient was presented with loss of hearing in his both right and left ears at the age of 30 years. The clinical symptoms, age of onset or progression to loss of hearing was similar in both the patient and his younger brother. The patient parents are normal and non-consanguineous. Clinical diagnosis of the patient and his younger brother has been done by classical pure tone audio gram (PTA). Computed Tomography (CT) found no abnormality in bilateral external ear, middle ear and inner ear. Targeted next generation sequencing was performed with a panel of 127 genes reported to be associated with hereditary hearing impairment. A novel single nucleotide deletion (c.427delT) in exon 4 of ILDR1 gene has been identified in patient and in his younger brother. This mutation has not been identified in 100 normal healthy control individuals. This mutation (c.427delT) causes frame-shift (p.Tyr143Ilefs*19) which leads to the formation of a truncated ILDR1 protein of 162 amino acids instead of the wild type ILDR1 protein of 546 amino acids. ILDR1 associated hereditary hearing impairment is very rare and this is the first report of identifying a loss-of-function mutation in ILDR1 gene associated with hereditary hearing impairment in Chinese population. Our present study also emphasized the significance of rapid, accurate and cost-effective screening for the patient with hereditary hearing impairment by targeted next generation sequencing. |
| Sample scope |
Monoisolate |
| Release date |
2018-11-26 |
| Publication |
| PubMed ID |
Article title |
Journal name |
DOI |
Year |
| 30804975
|
Targeted Next Generation Sequencing Revealed a Novel Homozygous Loss-of-Function Mutation in ILDR1 Gene Causes Autosomal Recessive Nonsyndromic Sensorineural Hearing Loss in a Chinese Family
|
Frontiers in Genetics
|
10.3389/fgene.2019.00001
|
2019
|
|
|
| Grants |
| Agency |
program |
Grant ID |
Grant title |
| No funding support
|
|
|
|
|
|
| Submitter |
An
jin
xia (anjin78@126.com)
|
| Organization |
Gansu Provincial Maternity and Child-Care Hospital |
| Submission date |
2018-11-26 |
