Targeted Capture Sequencing of
Deafness Genes. After excluding common mutations, the targeted
deafness gene capture was conducted by BGI Inc.
The details of the
deafness gene capture, sequencing, and bioinformatics analysis methods have been described in detail previously [7].
Recurrent mutations in the
deafness gene GJB2 (connexin 26) in British Asian families.
Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic
deafness gene DFNB4.
They wondered if he, too, would be deaf, so they were tested and learned they both likely had a recessive "
deafness gene." There was a one in four chance with each pregnancy their child may be deaf.
Since the two members of a deaf couple generally owe their hearing loss to different genes, assortative mating creates a nightmare for geneticists trying to track a single
deafness gene through a family's history, a useful step in finding its chromosomal location.
The mouse Snell's waltzer
deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells.
Mutation analysis of TMC1 identifies four new mutations and suggests an additional
deafness gene at loci DFNA36 and DFNB7/11.
Ethnic diversity of genetic variance has been reported in
deafness gene CDH23 [4-8].
Yagi, "Identification of the protein product of the Coch gene (hereditary
deafness gene) as the major component of bovine inner ear protein," Biochimica et Biophysica Acta (BBA)--Molecular Basis of Disease, vol.
Hence, the identification of novel
deafness gene and the annotation thereafter are appreciated greatly in the research field and clinical community.
Mutation analysis of the common
deafness genes in patients with nonsyndromic hearing loss in linyi by SNPscan assay.