Article
TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.
Human mutation - 1 Jul 2014
Azaiez Hela, Booth Kevin T, Bu Fengxiao, Huygen Patrick, Shibata Seiji B, Shearer A Eliot, Kolbe Diana, Meyer Nicole, Black-Ziegelbein E Ann, Smith Richard J H
Abstract excerpt
Hereditary hearing loss is extremely heterogeneous. Over 70 genes have been identified to date, and with the advent of massively parallel sequencing, the pace of novel gene discovery has accelerated. In a family segregating progressive autosomal-dominant nonsyndromic hearing loss (NSHL), we used OtoSCOPE® to exclude mutations in known deafness genes and then performed segregation mapping and whole-exome...
Topics
- Amino Acid Sequence
- Carrier Proteins
- DNA Mutational Analysis
- Deafness
- Exome
- Female
- GTPase-Activating Proteins
- Gene Expression
- Genes, Dominant
- High-Throughput Nucleotide Sequencing