| Autor: |
Booth, Kevin T, Kahrizi, Kimia, Najmabadi, Hossein, Azaiez, Hela, Smith, Richard JH |
| Zdroj: |
Journal of Medical Genetics (JMG); 2018, Vol. 55 Issue: 8 p555-560, 6p |
| Abstrakt: |
BackgroundHearing loss is a genetically and phenotypically heterogeneous disorder.ObjectivesThe purpose of this study was to determine the genetic cause underlying the postlingual progressive hearing loss in two Iranian families.MethodsWe used OtoSCOPE, a next-generation sequencing platform targeting >150 genes causally linked to deafness, to screen two deaf probands. Data analysis was completed using a custom bioinformatics pipeline, and variants were functionally assessed using minigene splicing assays.ResultsWe identified two homozygous splice-altering variants (c.37G>T and c.662–1G>C) in the CEACAM16gene, segregating with the deafness in each family. The minigene splicing results revealed the c.37G>T results in complete skipping of exon 2 and loss of the AUG start site. The c.662–1G>C activates a cryptic splice site inside exon 5 resulting in a shift in the mRNA reading frame.ConclusionsThese results suggest that loss-of-function mutations in CEACAM16result in postlingual progressive hearing impairment and further support the role of CEACAM16 in auditory function. |
| Databáze: |
Supplemental Index |
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