Journal
BALKAN MEDICAL JOURNAL
Volume 35, Issue 2, Pages 196-198Publisher
GALENOS PUBL HOUSE
DOI: 10.4274/balkanmedj.2017.0946
Keywords
Hearing loss; SYNE4 gene; high-throughput DNA sequencing
Categories
Funding
- National Institutes of Health [R01DC009645]
Ask authors/readers for more resources
Background: Hearing loss is the most common sensory deficit with many genetic and environmental underpinnings. While causative DNA variants have been identified in over 100 genes, most deafness-causing variants are rare, apart from a few exceptions. A single SYNE4 variant co-segregating with hearing loss has recently been reported in two Middle-Eastern families. Case Report: In this report we present two members of a family with non-syndromic high frequency sensorineural hearing loss who are homozygous for a novel pathogenic SYNE4 variant c.129-1G>T. Conclusion: This case report provides supportive evidence for the causative role of SYNE4 variants in hearing loss by presenting an additional family with a novel DNA variant.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available